(used for variant description)
(last modified December 27, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_032999.3 in the GTF2I gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering GTF2I transcript NM_032999.3.
(upstream sequence)
. . . . g.5010
aaaaaaaaaaaaaaaagaaaaaagaaaaaaaaaaggaggaggaggagga c.-361
. . . . . . g.5070
gggtgagagagaagctgggagagcagagaaaaggggccaccggtcgcccccccgcttccc c.-301
. . . . . . g.5130
cgcacgcgctctccagccgcggccgcccgcctgccgcggtcaccccggcctctgcctctg c.-241
. . . . . . g.5190
tcccccagtgatcggatcaaggcgctgagcgaggccctgcctgcggggcggccatgcggc c.-181
. . . . . . g.5250
ggtgacaggagcgcgaccgacacgcacgggcccctcgccccctctcgcctcccgtccgct c.-121
. . . . . . g.5310
cgccagctcccctcagccgaggctgctccgcggcggccgcagcccgcgcgcggcccacac c.-61
. . . . . . | 02 g.36433
tcgcctcccctcggcacccccggccccggagctgcctggaggcggccgcactcgg | ggatc c.-1
. . . . . . g.36493
ATGGCCCAAGTTGCAATGTCCACCCTCCCCGTTGAAGATGAGGAGTCCTCGGAGAGCAGG c.60
M A Q V A M S T L P V E D E E S S E S R p.20
. . . | 03 . . g.38296
ATGGTGGTGACATTCCTCATGTCAGCTCTCGAGTCCATG | TGTAAAGAACTGGCCAAGTCC c.120
M V V T F L M S A L E S M | C K E L A K S p.40
. . . . . . g.38356
AAAGCCGAAGTGGCCTGCATTGCAGTGTATGAAACAGACGTGTTTGTCGTCGGAACTGAA c.180
K A E V A C I A V Y E T D V F V V G T E p.60
. . . . . | 04 g.46263
AGAGGACGTGCTTTTGTCAATACCAGAAAGGATTTTCAAAAAGATTTTGTAAAATATT | GT c.240
R G R A F V N T R K D F Q K D F V K Y C | p.80
. . . . . . g.46323
GTTGAAGAAGAAGAAAAAGCTGCAGAGATGCATAAAATGAAATCTACAACCCAGGCAAAT c.300
V E E E E K A A E M H K M K S T T Q A N p.100
. . . . . . g.46383
CGGATGAGTGTAGATGCTGTAGAAATTGAAACACTCAGAAAAACAGTTGAGGACTATTTC c.360
R M S V D A V E I E T L R K T V E D Y F p.120
. | 05 . . . . . g.47594
TGCTTTTGCTATG | GGAAAGCTTTAGGCAAATCCACAGTGGTACCTGTACCATATGAGAAG c.420
C F C Y G | K A L G K S T V V P V P Y E K p.140
. . . . . . g.47654
ATGCTGCGAGACCAGTCGGCTGTGGTAGTGCAGGGGCTTCCGGAAGGTGTTGCCTTTAAA c.480
M L R D Q S A V V V Q G L P E G V A F K p.160
. . . . . . g.47714
CACCCCGAGAACTATGATCTTGCAACCCTGAAATGGATTTTGGAGAACAAAGCAGGGATT c.540
H P E N Y D L A T L K W I L E N K A G I p.180
. | 06. . . | 07 . . g.52480
TCATTCATCATTAAGAG | ACCTTTTTTAGAGCCAAAGAAGCATGTAG | GTGGTCGTGTGATG c.600
S F I I K R | P F L E P K K H V G | G R V M p.200
. . . . | 08 . . g.53710
GTAACAGATGCTGACAGGTCAATACTATCTCCAGGTGGAAG | TTGTGGCCCCATCAAAGTG c.660
V T D A D R S I L S P G G S | C G P I K V p.220
. . | 09 . . . . g.58368
AAAACTGAACCCACAGAAGATTCTG | GCATTTCCCTGGAAATGGCAGCTGTGACAGTAAAG c.720
K T E P T E D S G | I S L E M A A V T V K p.240
. . . . | 10 . . g.62164
GAAGAATCAGAAGATCCTGATTATTATCAATATAACATTCAAG | CAGGCCCTTCTGAAACT c.780
E E S E D P D Y Y Q Y N I Q A | G P S E T p.260
. . . . | 11 . . g.64201
GATGATGTTGATGAAAAACAGCCCCTATCGAAGCCTTTGCAAG | GAAGCCACCATTCTTCA c.840
D D V D E K Q P L S K P L Q G | S H H S S p.280
. . . . | 12 . . g.66188
GAGGGCAATGAAGGCACAGAAATGGAAGTACCAGCAGAAG | ATTCTACTCAACATGTCCCT c.900
E G N E G T E M E V P A E D | S T Q H V P p.300
. . . . | 13 . . g.76111
TCAGAAACAAGTGAGGACCCTGAAGTTGAGGTGACTATTGAAG | ATGATGATTATTCTCCA c.960
S E T S E D P E V E V T I E D | D D Y S P p.320
. . . . . . g.76171
CCGTCTAAGAGACCAAAGGCCAATGAGCTACCGCAGCCACCAGTCCCGGAACCCGCCAAT c.1020
P S K R P K A N E L P Q P P V P E P A N p.340
. . . | 14 . . . g.77563
GCTGGGAAGCGGAAAGTGAGGGAGTTCAACTTCG | AGAAATGGAATGCTCGCATCACTGAT c.1080
A G K R K V R E F N F E | K W N A R I T D p.360
. . . . | 15 . . g.79810
CTACGTAAACAAGTTGAAGAATTGTTTGAAAGGAAATATG | CTCAAGCCATAAAAGCCAAA c.1140
L R K Q V E E L F E R K Y A | Q A I K A K p.380
. . . . . . g.79870
GGTCCGGTGACGATCCCGTACCCTCTTTTCCAGTCTCATGTTGAAGATCTTTATGTAGAA c.1200
G P V T I P Y P L F Q S H V E D L Y V E p.400
. . . . . . g.79930
GGACTTCCTGAAGGAATTCCTTTTAGAAGGCCATCTACTTACGGAATTCCTCGCCTGGAG c.1260
G L P E G I P F R R P S T Y G I P R L E p.420
. . . . | 16 . . g.81251
AGGATATTACTTGCAAAGGAAAGGATTCGTTTTGTGATTAAGAA | ACATGAGCTTCTGAAT c.1320
R I L L A K E R I R F V I K K | H E L L N p.440
. . . . | 17 . . g.82790
TCAACACGTGAAGATTTACAGCTTGATAAGCCAGCTTCAGGAG | TAAAGGAAGAATGGTAT c.1380
S T R E D L Q L D K P A S G V | K E E W Y p.460
. . . . . | 18 . g.83817
GCCAGAATCACTAAATTAAGAAAGATGGTGGATCAGCTTTTCTGCAAAAAATTTG | CGGAA c.1440
A R I T K L R K M V D Q L F C K K F A | E p.480
. . . . . . g.83877
GCCTTGGGGAGCACTGAAGCCAAGGCTGTACCGTACCAAAAATTTGAGGCACACCCGAAT c.1500
A L G S T E A K A V P Y Q K F E A H P N p.500
. . . . . . g.83937
GATCTGTACGTGGAAGGACTGCCAGAAAACATTCCTTTCCGAAGTCCCTCATGGTATGGA c.1560
D L Y V E G L P E N I P F R S P S W Y G p.520
. . . . . | 19 g.85358
ATCCCAAGGCTGGAAAAAATCATTCAAGTGGGCAATCGAATTAAATTTGTTATTAAAAG | A c.1620
I P R L E K I I Q V G N R I K F V I K R | p.540
. . . . . | 20 g.90760
CCAGAACTTCTGACTCACAGTACCACTGAAGTTACTCAGCCAAGAACGAATACACCAG | TC c.1680
P E L L T H S T T E V T Q P R T N T P V | p.560
. . . . . . g.90820
AAAGAAGATTGGAATGTCAGAATTACCAAGCTACGGAAGCAAGTGGAAGAGATTTTTAAT c.1740
K E D W N V R I T K L R K Q V E E I F N p.580
. | 21 . . . . . g.92117
TTGAAATTTG | CTCAAGCTCTTGGACTCACCGAGGCAGTAAAAGTACCATATCCTGTGTTT c.1800
L K F A | Q A L G L T E A V K V P Y P V F p.600
. . . . . . g.92177
GAATCAAACCCGGAGTTCTTGTATGTGGAAGGCTTGCCAGAGGGGATTCCCTTCCGAAGC c.1860
E S N P E F L Y V E G L P E G I P F R S p.620
. . . . . . g.92237
CCTACCTGGTTTGGAATTCCACGACTTGAAAGGATCGTCCGCGGGAGTAATAAAATCAAG c.1920
P T W F G I P R L E R I V R G S N K I K p.640
. | 22 . . . . . g.93238
TTCGTTGTTAAAAA | ACCTGAACTAGTTATTTCCTACTTGCCTCCTGGGATGGCTAGTAAA c.1980
F V V K K | P E L V I S Y L P P G M A S K p.660
. | 23 . . . . . g.93693
ATAAACACTAAAG | CTTTGCAGTCCCCCAAAAGACCACGAAGTCCTGGGAGTAATTCAAAG c.2040
I N T K A | L Q S P K R P R S P G S N S K p.680
. . | 24 . . . g.95354
GTTCCTGAAATTGAGGTCACCGTGGAAG | GCCCTAATAACAACAATCCTCAAACCTCAGCT c.2100
V P E I E V T V E G | P N N N N P Q T S A p.700
. . . . . . g.95414
GTTCGAACCCCGACCCAGACTAACGGTTCTAACGTTCCCTTCAAGCCACGAGGGAGAGAG c.2160
V R T P T Q T N G S N V P F K P R G R E p.720
. | 25 . . . . . g.96382
TTTTCCTTTG | AGGCCTGGAATGCCAAAATCACGGACCTAAAACAGAAAGTTGAAAATCTC c.2220
F S F E | A W N A K I T D L K Q K V E N L p.740
. | 26 . . . . . g.96619
TTCAATGAGAAATGTG | GGGAAGCTCTTGGCCTTAAACAAGCTGTGAAGGTGCCGTTCGCG c.2280
F N E K C G | E A L G L K Q A V K V P F A p.760
. . . . . . g.96679
TTATTTGAGTCTTTCCCGGAAGACTTTTATGTGGAAGGCTTACCTGAGGGTGTGCCATTC c.2340
L F E S F P E D F Y V E G L P E G V P F p.780
. . . . . . g.96739
CGAAGACCATCGACTTTTGGCATTCCGAGGCTGGAGAAGATACTCAGAAACAAAGCCAAA c.2400
R R P S T F G I P R L E K I L R N K A K p.800
. . | 27 . . . . g.98703
ATTAAGTTCATCATTAAAAA | GCCCGAAATGTTTGAGACGGCGATTAAGGAGAGCACCTCC c.2460
I K F I I K K | P E M F E T A I K E S T S p.820
. | 28 . . . . . g.99436
TCTAAGAGCCCTCCCA | GAAAAATAAATTCATCACCCAATGTTAATACTACTGCATCAGGT c.2520
S K S P P R | K I N S S P N V N T T A S G p.840
. . . | 29. . . g.100419
GTTGAAGACCTTAACATCATTCAGGTGACAATTCCAG | ATGATGATAATGAAAGACTCTCG c.2580
V E D L N I I Q V T I P D | D D N E R L S p.860
. . . . . . g.100479
AAAGTTGAAAAAGCTAGACAGCTAAGAGAACAAGTGAATGACCTCTTTAGTCGGAAATTT c.2640
K V E K A R Q L R E Q V N D L F S R K F p.880
| 30 . . . . . . g.101207
G | GTGAAGCTATTGGTATGGGTTTTCCTGTGAAAGTTCCCTACAGGAAAATCACAATTAAC c.2700
G | E A I G M G F P V K V P Y R K I T I N p.900
. . . . . . g.101267
CCTGGCTGTGTGGTGGTTGATGGCATGCCCCCGGGGGTGTCCTTCAAAGCCCCCAGCTAC c.2760
P G C V V V D G M P P G V S F K A P S Y p.920
. . . . . . g.101327
CTGGAAATCAGCTCCATGAGAAGGATCTTAGACTCTGCCGAGTTTATCAAATTCACGGTC c.2820
L E I S S M R R I L D S A E F I K F T V p.940
| 31 . . . | 32 . . . g.104148
ATTAG | ACCATTTCCAGGACTTGTGATTAATAACC | AGCTGGTTGATCAGAGTGAGTCAGAA c.2880
I R | P F P G L V I N N Q | L V D Q S E S E p.960
. | 33 . . . . | 34 g.106082
GGCCCCGTGATACAAG | AATCAGCTGAACCAAGCCAGTTGGAAGTTCCAGCCACAGAAG | AA c.2940
G P V I Q E | S A E P S Q L E V P A T E E | p.980
. . . . . g.106139
ATAAAAGAGACTGATGGAAGCTCTCAGATCAAGCAAGAACCAGACCCCACGTGGTAG c.2997
I K E T D G S S Q I K Q E P D P T W X p.998
. | 35. . . . . g.106891
acctcttccctcctagg | cttaaagtatcagtggttgagaagagcttttcggacctgttac c.*60
. . . . . . g.106951
taccccaagctgtgtaatatacttgtataacagaaataccttctatacaaaccttttttt c.*120
. . . . . . g.107011
ctacttttagatagaaatgtctactttttcagcagttctgtgaattaaagagcagagtga c.*180
. . . . . . g.107071
ctgtgggtctggaatggctggtgtacttgggaatgtactatcaggattttacagcaatgc c.*240
. . . . . . g.107131
tgggaaatgacagggaaaatgacaggaatgaatctcaccagattttttatgtactcagca c.*300
. . . . . . g.107191
gagccttgagttacggtgtttattttccaatcaagtgaagatatctcctacttctcctac c.*360
. . . . . . g.107251
tggaacatctcagcttctgcagtgaagaaaaattcctgtgatagttcagttctttagttt c.*420
. . . . . . g.107311
ttctatttgaaaaaaaaaaatcatttaaatgatcctttgttcacggctctccttaatgac c.*480
. . . . . . g.107371
tgagtgaacagttcctatctgtatatttgactaaaccttttcctaagctatctctcatgg c.*540
. . . . . . g.107431
ttcctatgtttttttatcataattaaaagcaaaaccatctggatcacctaacagtcagag c.*600
. . . . . . g.107491
gtcagtatctcagcgtgtgaattatagaggaaatacagagagaacctcttccacttttac c.*660
. . . . . . g.107551
ttttcgtccaaataaaatgcatggtgtaccagaagttgaagatcgggttgaggattgggg c.*720
. . . . . . g.107611
ctagctcgatgacactaaggccccaacatcgcgggacctgctgtggcgcggattcttagg c.*780
. . . . . . g.107671
aacgctgttctagccggccccctctccaggggtcgccgtggccggcattatttcctagtt c.*840
. . . . . . g.107731
cttcttgtaaccctgaggtgccagcgcggggagtgaggaggggtcagggggctaaggatg c.*900
. . . . . . g.107791
caacctctgacgttctgcgccttcctaggagagtcttacatgtgttgagatttcacaagc c.*960
. . . . . . g.107851
aatgcgagttgtaaaataccagctctacaagaagctaggctctgtgacggcatagttttc c.*1020
. . . . . . g.107911
agtagctttatcacaatattcacaatggagaattatatgacatggtagcagaaataggcc c.*1080
. . . . . . g.107971
cttttatgtgttgcttctattttacctcaaattgtagatatagggtaatcaataaaatcc c.*1140
. . g.107993
atccatgcctttcacacactaa c.*1162
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 30b
©2004-2025 Leiden University Medical Center