(used for variant description)
(last modified September 17, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000142.4 in the FGFR3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012632.1, covering FGFR3 transcript NM_000142.4.
(upstream sequence)
. g.5016
gtcgcgggcagctggc c.-241
. . . . . . g.5076
gccgcgcggtcctgctctgccggtcgcacggacgcaccggcgggccgccggccggaggga c.-181
. . . . . . g.5136
cggggcgggagctgggcccgcggacagcgagccggagcgggagccgcgcgtagcgagccg c.-121
. . | 02. . . . g.5563
ggctccggcgctcgccag | tctcccgagcggcgcccgcctcccgccggtgcccgcgccggg c.-61
. . . . . . g.5623
ccgtggggggcagcatgcccgcgcgcgctgcctgaggacgccgcggcccccgcccccgcc c.-1
. . . . . . g.5683
ATGGGCGCCCCTGCCTGCGCCCTCGCGCTCTGCGTGGCCGTGGCCATCGTGGCCGGCGCC c.60
M G A P A C A L A L C V A V A I V A G A p.20
. . . . | 03 . g.10953
TCCTCGGAGTCCTTGGGGACGGAGCAGCGCGTCGTGGGGCGAGCGGCAG | AAGTCCCGGGC c.120
S S E S L G T E Q R V V G R A A E | V P G p.40
. . . . . . g.11013
CCAGAGCCCGGCCAGCAGGAGCAGTTGGTCTTCGGCAGCGGGGATGCTGTGGAGCTGAGC c.180
P E P G Q Q E Q L V F G S G D A V E L S p.60
. . . . . . g.11073
TGTCCCCCGCCCGGGGGTGGTCCCATGGGGCCCACTGTCTGGGTCAAGGATGGCACAGGG c.240
C P P P G G G P M G P T V W V K D G T G p.80
. . . . . . g.11133
CTGGTGCCCTCGGAGCGTGTCCTGGTGGGGCCCCAGCGGCTGCAGGTGCTGAATGCCTCC c.300
L V P S E R V L V G P Q R L Q V L N A S p.100
. . . . . . g.11193
CACGAGGACTCCGGGGCCTACAGCTGCCGGCAGCGGCTCACGCAGCGCGTACTGTGCCAC c.360
H E D S G A Y S C R Q R L T Q R V L C H p.120
. | 04 . . . . g.11476
TTCAGTGTGCGGGTGACAG | ACGCTCCATCCTCGGGAGATGACGAAGACGGGGAGGACGAG c.420
F S V R V T D | A P S S G D D E D G E D E p.140
. . | 05 . . . . g.13090
GCTGAGGACACAGGTGTGGACACAG | GGGCCCCTTACTGGACACGGCCCGAGCGGATGGAC c.480
A E D T G V D T G | A P Y W T R P E R M D p.160
. . . . . . g.13150
AAGAAGCTGCTGGCCGTGCCGGCCGCCAACACCGTCCGCTTCCGCTGCCCAGCCGCTGGC c.540
K K L L A V P A A N T V R F R C P A A G p.180
. . . . . . g.13210
AACCCCACTCCCTCCATCTCCTGGCTGAAGAACGGCAGGGAGTTCCGCGGCGAGCACCGC c.600
N P T P S I S W L K N G R E F R G E H R p.200
. | 06 . . . . . g.13353
ATTGGAGGCATCAAG | CTGCGGCATCAGCAGTGGAGCCTGGTCATGGAAAGCGTGGTGCCC c.660
I G G I K | L R H Q Q W S L V M E S V V P p.220
. . . . . . g.13413
TCGGACCGCGGCAACTACACCTGCGTCGTGGAGAACAAGTTTGGCAGCATCCGGCAGACG c.720
S D R G N Y T C V V E N K F G S I R Q T p.240
. | 07 . . . . g.13564
TACACGCTGGACGTGCTGG | AGCGCTCCCCGCACCGGCCCATCCTGCAGGCGGGGCTGCCG c.780
Y T L D V L E | R S P H R P I L Q A G L P p.260
. . . . . . g.13624
GCCAACCAGACGGCGGTGCTGGGCAGCGACGTGGAGTTCCACTGCAAGGTGTACAGTGAC c.840
A N Q T A V L G S D V E F H C K V Y S D p.280
. . . . . . g.13684
GCACAGCCCCACATCCAGTGGCTCAAGCACGTGGAGGTGAATGGCAGCAAGGTGGGCCCG c.900
A Q P H I Q W L K H V E V N G S K V G P p.300
. . . | 08 . . . g.15410
GACGGCACACCCTACGTTACCGTGCTCAAG | ACGGCGGGCGCTAACACCACCGACAAGGAG c.960
D G T P Y V T V L K | T A G A N T T D K E p.320
. . . . . . g.15470
CTAGAGGTTCTCTCCTTGCACAACGTCACCTTTGAGGACGCCGGGGAGTACACCTGCCTG c.1020
L E V L S L H N V T F E D A G E Y T C L p.340
. . . . . | 09 . g.16023
GCGGGCAATTCTATTGGGTTTTCTCATCACTCTGCGTGGCTGGTGGTGCTGCCAG | CCGAG c.1080
A G N S I G F S H H S A W L V V L P A | E p.360
. . . . . . g.16083
GAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCATCCTCAGCTACGGG c.1140
E E L V E A D E A G S V Y A G I L S Y G p.380
. . . . . . g.16143
GTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGACGCTCTGCCGCCTGCGCAGC c.1200
V G F F L F I L V V A A V T L C R L R S p.400
. . . . . . g.16203
CCCCCCAAGAAAGGCCTGGGCTCCCCCACCGTGCACAAGATCTCCCGCTTCCCGCTCAAG c.1260
P P K K G L G S P T V H K I S R F P L K p.420
| 10 . . . . . . g.16566
CGACAG | GTGTCCCTGGAGTCCAACGCGTCCATGAGCTCCAACACACCACTGGTGCGCATC c.1320
R Q | V S L E S N A S M S S N T P L V R I p.440
. . . . . . g.16626
GCAAGGCTGTCCTCAGGGGAGGGCCCCACGCTGGCCAATGTCTCCGAGCTCGAGCTGCCT c.1380
A R L S S G E G P T L A N V S E L E L P p.460
. . . | 11 . . . g.17071
GCCGACCCCAAATGGGAGCTGTCTCGGGCCCG | GCTGACCCTGGGCAAGCCCCTTGGGGAG c.1440
A D P K W E L S R A R | L T L G K P L G E p.480
. . . . . . g.17131
GGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCC c.1500
G C F G Q V V M A E A I G I D K D R A A p.500
. . . | 12 . . . g.17273
AAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAG | ACGATGCCACTGACAAGGACCTGTCG c.1560
K P V T V A V K M L K D | D A T D K D L S p.520
. . . . . . g.17333
GACCTGGTGTCTGAGATGGAGATGATGAAGATGATCGGGAAACACAAAAACATCATCAAC c.1620
D L V S E M E M M K M I G K H K N I I N p.540
. . | 13 . . . . g.17473
CTGCTGGGCGCCTGCACGCAGGGCG | GGCCCCTGTACGTGCTGGTGGAGTACGCGGCCAAG c.1680
L L G A C T Q G G | P L Y V L V E Y A A K p.560
. . . . . . g.17533
GGTAACCTGCGGGAGTTTCTGCGGGCGCGGCGGCCCCCGGGCCTGGACTACTCCTTCGAC c.1740
G N L R E F L R A R R P P G L D Y S F D p.580
. . . . . . g.17593
ACCTGCAAGCCGCCCGAGGAGCAGCTCACCTTCAAGGACCTGGTGTCCTGTGCCTACCAG c.1800
T C K P P E E Q L T F K D L V S C A Y Q p.600
. . . | 14 . . . g.17763
GTGGCCCGGGGCATGGAGTACTTGGCCTCCCAGAAG | TGCATCCACAGGGACCTGGCTGCC c.1860
V A R G M E Y L A S Q K | C I H R D L A A p.620
. . . . . . g.17823
CGCAATGTGCTGGTGACCGAGGACAACGTGATGAAGATCGCAGACTTCGGGCTGGCCCGG c.1920
R N V L V T E D N V M K I A D F G L A R p.640
. . . | 15 . . g.17966
GACGTGCACAACCTCGACTACTACAAGAAGACAACCAAC | GGCCGGCTGCCCGTGAAGTGG c.1980
D V H N L D Y Y K K T T N | G R L P V K W p.660
. . . . . | 16 . g.18244
ATGGCGCCTGAGGCCTTGTTTGACCGAGTCTACACTCACCAGAGTGACGT | CTGGTCCTTT c.2040
M A P E A L F D R V Y T H Q S D V | W S F p.680
. . . . . . g.18304
GGGGTCCTGCTCTGGGAGATCTTCACGCTGGGGGGCTCCCCGTACCCCGGCATCCCTGTG c.2100
G V L L W E I F T L G G S P Y P G I P V p.700
. . . . . . g.18364
GAGGAGCTCTTCAAGCTGCTGAAGGAGGGCCACCGCATGGACAAGCCCGCCAACTGCACA c.2160
E E L F K L L K E G H R M D K P A N C T p.720
| 17 . . . . . g.18569
CACGACCT | GTACATGATCATGCGGGAGTGCTGGCATGCCGCGCCCTCCCAGAGGCCCACC c.2220
H D L | Y M I M R E C W H A A P S Q R P T p.740
. . . . . | 18 . g.18810
TTCAAGCAGCTGGTGGAGGACCTGGACCGTGTCCTTACCGTGACGTCCACCGAC | GAGTAC c.2280
F K Q L V E D L D R V L T V T S T D | E Y p.760
. . . . . . g.18870
CTGGACCTGTCGGCGCCTTTCGAGCAGTACTCCCCGGGTGGCCAGGACACCCCCAGCTCC c.2340
L D L S A P F E Q Y S P G G Q D T P S S p.780
. . . . . . g.18930
AGCTCCTCAGGGGACGACTCCGTGTTTGCCCACGACCTGCTGCCCCCGGCCCCACCCAGC c.2400
S S S G D D S V F A H D L L P P A P P S p.800
. . g.18951
AGTGGGGGCTCGCGGACGTGA c.2421
S G G S R T X p.806
. . . . . . g.19011
agggccactggtccccaacaatgtgaggggtccctagcagcccaccctgctgctggtgca c.*60
. . . . . . g.19071
cagccactccccggcatgagactcagtgcagatggagagacagctacacagagctttggt c.*120
. . . . . . g.19131
ctgtgtgtgtgtgtgtgcgtgtgtgtgtgtgtgtgtgcacatccgcgtgtgcctgtgtgc c.*180
. . . . . . g.19191
gtgcgcatcttgcctccaggtgcagaggtaccctgggtgtccccgctgctgtgcaacggt c.*240
. . . . . . g.19251
ctcctgactggtgctgcagcaccgaggggcctttgttctggggggacccagtgcagaatg c.*300
. . . . . . g.19311
taagtgggcccacccggtgggacccccgtggggcagggagctgggcccgacatggctccg c.*360
. . . . . . g.19371
gcctctgcctttgcaccacgggacatcacagggtgggcctcggcccctcccacacccaaa c.*420
. . . . . . g.19431
gctgagcctgcagggaagccccacatgtccagcaccttgtgcctggggtgttagtggcac c.*480
. . . . . . g.19491
cgcctccccacctccaggctttcccacttcccaccctgcccctcagagactgaaattacg c.*540
. . . . . . g.19551
ggtacctgaagatgggagcctttaccttttatgcaaaaggtttattccggaaactagtgt c.*600
. . . . . . g.19611
acatttctataaatagatgctgtgtatatggtatatatacatatatatatataacatata c.*660
. . . . . . g.19671
tggaagaggaaaaggctggtacaacggaggcctgcgaccctgggggcacaggaggcaggc c.*720
. . . . . . g.19731
atggccctgggcggggcgtgggggggcgtggagggaggccccagggggtctcacccatgc c.*780
. . . . . . g.19791
aagcagaggaccagggccttttctggcaccgcagttttgttttaaaactggacctgtata c.*840
. . . . . . g.19851
tttgtaaagctatttatgggcccctggcactcttgttcccacaccccaacacttccagca c.*900
. . . . . . g.19911
tttagctggccacatggcggagagttttaatttttaacttattgacaaccgagaaggttt c.*960
. . . . . . g.19971
atcccgccgatagagggacggccaagaatgtacgtccagcctgccccggagctggaggat c.*1020
. . . . . . g.20031
cccctccaagcctaaaaggttgttaatagttggaggtgattccagtgaagatattttatt c.*1080
. . . . . . g.20091
tcctttgtcctttttcaggagaattagatttctataggatttttctttaggagatttatt c.*1140
. . . . . . g.20151
ttttggacttcaaagcaagctggtattttcatacaaattcttctaattgctgtgtgtccc c.*1200
. . . . . . g.20211
aggcagggagacggtttccagggaggggccggccctgtgtgcaggttccgatgttattag c.*1260
. . . . . . g.20271
atgttacaagtttatatatatctatatatataatttattgagtttttacaagatgtattt c.*1320
. . . . . . g.20331
gttgtagacttaacacttcttacgcaatgcttctagagttttatagcctggactgctacc c.*1380
. . . . . . g.20391
tttcaaagcttggagggaagccgtgaattcagttggttcgttctgtactgttactgggcc c.*1440
. . . . . . g.20451
ctgagtctgggcagctgtcccttgcttgcctgcagggccatggctcagggtggtctcttc c.*1500
. . . . . . g.20511
ttggggcccagtgcatggtggccagaggtgtcacccaaaccggcaggtgcgattttgtta c.*1560
. . . . . g.20561
acccagcgacgaactttccgaaaaataaagacacctggttgctaacctgg c.*1610
(downstream sequence)
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