(used for variant description)
(last modified November 5, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_207346.2 in the TSEN54 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013041.1, covering TSEN54 transcript NM_207346.2.
(upstream sequence)
. . . g.5033
gtggcggcgcgcgcagcggcaggcggcggcggg c.-1
. . . . . | 02 . g.5222
ATGGAGCCCGAGCCCGAGCCCGCGGCCGTGGAGGTTCCCGCGGGGCGCGTGCTCAG | CGCC c.60
M E P E P E P A A V E V P A G R V L S | A p.20
. . . . . . g.5282
CGGGAGCTCTTCGCCGCCCGCTCGCGGTCGCAGAAGCTGCCCCAGCGCTCGCATGGCCCC c.120
R E L F A A R S R S Q K L P Q R S H G P p.40
. . . . . . g.5342
AAGGACTTTCTGCCCGACGGCTCGGCAGCTCAGGCCGAGCGGCTGCGCCGGTGCCGGGAA c.180
K D F L P D G S A A Q A E R L R R C R E p.60
. . . . | 03 . . g.5500
GAGCTCTGGCAGCTGCTGGCAGAGCAGCGCGTGGAGCGCCT | GGGCAGCTTGGTGGCTGCC c.240
E L W Q L L A E Q R V E R L | G S L V A A p.80
. . . . | 04 . . g.5648
GAGTGGAGGCCAGAAGAGGGCTTCGTGGAGTTGAAGTCTCCCGCG | GGCAAATTCTGGCAG c.300
E W R P E E G F V E L K S P A | G K F W Q p.100
. . . . . . g.5708
ACCATGGGCTTCTCAGAGCAGGGCCGGCAGCGCCTTCACCCGGAAGAGGCCTTGTATCTT c.360
T M G F S E Q G R Q R L H P E E A L Y L p.120
| 05 . . . . . g.6080
CTGGAGTGT | GGCTCCATCCACCTCTTCCACCAAGACCTGCCACTGTCTATCCAGGAAGCT c.420
L E C | G S I H L F H Q D L P L S I Q E A p.140
. . . . | 06 . g.7479
TACCAGCTGCTGCTGACCGACCACACTGTGACCTTCCTGCAGTACCAG | GTCTTCAGCCAC c.480
Y Q L L L T D H T V T F L Q Y Q | V F S H p.160
. . . . | 07 . . g.9900
CTGAAGAGGTTGGGTTATGTGGTTCGACGATTCCAACCAAG | CTCTGTCCTGTCCCCGTAT c.540
L K R L G Y V V R R F Q P S | S V L S P Y p.180
. . . . . . g.9960
GAGAGGCAGCTTAACCTGGATGCCAGCGTGCAGCACTTGGAGGATGGAGATGGCAAGAGA c.600
E R Q L N L D A S V Q H L E D G D G K R p.200
. . | 08 . . . . g.10214
AAGAGGAGCAGCTCCAGCCCTCG | GTCCATTAATAAGAAGGCCAAGGCCCTGGACAACTCC c.660
K R S S S S P R | S I N K K A K A L D N S p.220
. . . . . . g.10274
CTGCAACCCAAGAGTCTGGCAGCCTCCAGCCCACCTCCCTGCAGCCAGCCCAGCCAATGC c.720
L Q P K S L A A S S P P P C S Q P S Q C p.240
. . . . . . g.10334
CCAGAGGAGAAACCCCAGGAGTCAAGCCCCATGAAGGGCCCAGGGGGCCCCTTTCAGCTT c.780
P E E K P Q E S S P M K G P G G P F Q L p.260
. . . . . . g.10394
CTGGGGTCCCTGGGCCCCAGCCCTGGCCCGGCCAGGGAGGGGGTGGGGTGCAGCTGGGAG c.840
L G S L G P S P G P A R E G V G C S W E p.280
. . . . . . g.10454
AGTGGCAGAGCCGAGAACGGAGTCACGGGAGCCGGTAAGCGGCGCTGGAACTTCGAGCAG c.900
S G R A E N G V T G A G K R R W N F E Q p.300
. . . . . . g.10514
ATCTCCTTCCCCAACATGGCTTCAGACAGCCGCCACACCCTTCTGCGCGCCCCAGCCCCA c.960
I S F P N M A S D S R H T L L R A P A P p.320
. . . . . . g.10574
GAGCTGCTCCCGGCCAACGTGGCTGGGCGGGAGACAGACGCTGAGTCCTGGTGCCAGAAG c.1020
E L L P A N V A G R E T D A E S W C Q K p.340
. . . . . . g.10634
CTGAACCAGCGCAAGGAGAAGCTCTCCAGGCGGGAACGGGAGCACCACGCGGAGGCCGCG c.1080
L N Q R K E K L S R R E R E H H A E A A p.360
. . . . . . g.10694
CAGTTCCAGGAAGATGTCAACGCCGATCCCGAGGTGCAGCGGTGCTCCAGCTGGCGGGAG c.1140
Q F Q E D V N A D P E V Q R C S S W R E p.380
. . . . . . g.10754
TACAAGGAGCTGCTGCAGCGGCGGCAGGTGCAGAGGAGCCAGCGCCGGGCCCCTCACCTG c.1200
Y K E L L Q R R Q V Q R S Q R R A P H L p.400
. . . . . | 09 . g.11755
TGGGGCCAGCCCGTCACCCCGCTGCTGAGTCCTGGCCAGGCCAGCTCCCCAG | CCGTGGTC c.1260
W G Q P V T P L L S P G Q A S S P A | V V p.420
. . . . . | 10 . g.12142
CTTCAGCATATCTCTGTGCTGCAGACAACACACCTTCCTGATGGAGGTGCCCG | GCTGTTG c.1320
L Q H I S V L Q T T H L P D G G A R | L L p.440
. . . . . . g.12202
GAGAAGTCTGGGGGCTTGGAAATCATCTTTGATGTTTACCAGGCCGACGCTGTGGCCACA c.1380
E K S G G L E I I F D V Y Q A D A V A T p.460
. . . . . | 11 . g.12744
TTCCGAAAGAATAACCCTGGCAAACCCTATGCCCGGATGTGCATTAGTGG | ATTTGATGAG c.1440
F R K N N P G K P Y A R M C I S G | F D E p.480
. . . . . . g.12804
CCTGTCCCAGACCTCTGCAGCCTCAAGCGGTTGTCTTACCAGAGTGGGGATGTCCCTCTG c.1500
P V P D L C S L K R L S Y Q S G D V P L p.500
. . . . . . g.12864
ATCTTTGCCCTGGTGGATCATGGTGACATCTCCTTCTACAGCTTCAGGGACTTCACGTTG c.1560
I F A L V D H G D I S F Y S F R D F T L p.520
. . g.12885
CCCCAGGATGTGGGGCACTGA c.1581
P Q D V G H X p.526
. . . . . . g.12945
cctcacagctctgcagaggatggagcttgctccgggggaccgggactgtctgttctcagg c.*60
. . . . . . g.13005
gaccatctcggctgcctcctgtacccagactctaacctgtagcttcagaggccagtctgg c.*120
. . . . . . g.13065
gccttggccctgggtgtctgatactcacagagtgaaactgtgaccctctcccttccctgc c.*180
. . . . . . g.13125
tgccttgcagtgacccctctggaactcaggactcgattttaaggacccaggaggtggggc c.*240
. . . . . . g.13185
agaagagaggactgtgtgcctttaacgagagggtgcctgcttcgtgctataaagccaaag c.*300
. . g.13212
ccattaaaaatagatttcttttctgct c.*327
(downstream sequence)
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