(used for variant description)
(last modified April 3, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001909.4 in the CTSD gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008655.1, covering CTSD transcript NM_001909.4.
(upstream sequence)
. g.5013
gcgcacgccggcc c.-121
. . . . . . g.5073
gcgcccacgtgaccggtccgggtgcaaacacgcgggtcagctgatccggcccaactgcgg c.-61
. . . . . . g.5133
cgtcatcccggctataagcgcacggcctcggcgaccctctccgacccggccgccgccgcc c.-1
. . . . . . g.5193
ATGCAGCCCTCCAGCCTTCTGCCGCTCGCCCTCTGCCTGCTGGCTGCACCCGCCTCCGCG c.60
M Q P S S L L P L A L C L L A A P A S A p.20
| 02 . . . . . g.7576
CTCGTCAG | GATCCCGCTGCACAAGTTCACGTCCATCCGCCGGACCATGTCGGAGGTTGGG c.120
L V R | I P L H K F T S I R R T M S E V G p.40
. . . . . . g.7636
GGCTCTGTGGAGGACCTGATTGCCAAAGGCCCCGTCTCAAAGTACTCCCAGGCGGTGCCA c.180
G S V E D L I A K G P V S K Y S Q A V P p.60
. . . . | 03 . g.9365
GCCGTGACCGAGGGGCCCATTCCCGAGGTGCTCAAGAACTACATGGAC | GCCCAGTACTAC c.240
A V T E G P I P E V L K N Y M D | A Q Y Y p.80
. . . . . . g.9425
GGGGAGATTGGCATCGGGACGCCCCCCCAGTGCTTCACAGTCGTCTTCGACACGGGCTCC c.300
G E I G I G T P P Q C F T V V F D T G S p.100
. . . . . | 04 . g.9913
TCCAACCTGTGGGTCCCCTCCATCCACTGCAAACTGCTGGACATCGCTTGCT | GGATCCAC c.360
S N L W V P S I H C K L L D I A C W | I H p.120
. . . . . . g.9973
CACAAGTACAACAGCGACAAGTCCAGCACCTACGTGAAGAATGGTACCTCGTTTGACATC c.420
H K Y N S D K S S T Y V K N G T S F D I p.140
. . . . . | 05 . g.11445
CACTATGGCTCGGGCAGCCTCTCCGGGTACCTGAGCCAGGACACTGTGTCG | GTGCCCTGC c.480
H Y G S G S L S G Y L S Q D T V S | V P C p.160
. . . . . . g.11505
CAGTCAGCGTCGTCAGCCTCTGCCCTGGGCGGTGTCAAAGTGGAGAGGCAGGTCTTTGGG c.540
Q S A S S A S A L G G V K V E R Q V F G p.180
. . . . . . g.11565
GAGGCCACCAAGCAGCCAGGCATCACCTTCATCGCAGCCAAGTTCGATGGCATCCTGGGC c.600
E A T K Q P G I T F I A A K F D G I L G p.200
. . . . . . g.11625
ATGGCCTACCCCCGCATCTCCGTCAACAACGTGCTGCCCGTCTTCGACAACCTGATGCAG c.660
M A Y P R I S V N N V L P V F D N L M Q p.220
. . . . | 06 . . g.13980
CAGAAGCTGGTGGACCAGAACATCTTCTCCTTCTACCTGAGCAG | GGACCCAGATGCGCAG c.720
Q K L V D Q N I F S F Y L S R | D P D A Q p.240
. . . . . . g.14040
CCTGGGGGTGAGCTGATGCTGGGTGGCACAGACTCCAAGTATTACAAGGGTTCTCTGTCC c.780
P G G E L M L G G T D S K Y Y K G S L S p.260
. . . . | 07. . g.14867
TACCTGAATGTCACCCGCAAGGCCTACTGGCAGGTCCACCTGGACCA | GGTGGAGGTGGCC c.840
Y L N V T R K A Y W Q V H L D Q | V E V A p.280
. . . . . . g.14927
AGCGGGCTGACCCTGTGCAAGGAGGGCTGTGAGGCCATTGTGGACACAGGCACTTCCCTC c.900
S G L T L C K E G C E A I V D T G T S L p.300
. . . . . . g.14987
ATGGTGGGCCCGGTGGATGAGGTGCGCGAGCTGCAGAAGGCCATCGGGGCCGTGCCGCTG c.960
M V G P V D E V R E L Q K A I G A V P L p.320
. | 08 . . . . . g.15139
ATTCAGGGCGAG | TACATGATCCCCTGTGAGAAGGTGTCCACCCTGCCCGCGATCACACTG c.1020
I Q G E | Y M I P C E K V S T L P A I T L p.340
. . . . . | 09 . g.15331
AAGCTGGGAGGCAAAGGCTACAAGCTGTCCCCAGAGGACTACACGCTCAAG | GTGTCGCAG c.1080
K L G G K G Y K L S P E D Y T L K | V S Q p.360
. . . . . . g.15391
GCCGGGAAGACCCTCTGCCTGAGCGGCTTCATGGGCATGGACATCCCGCCACCCAGCGGG c.1140
A G K T L C L S G F M G M D I P P P S G p.380
. . . . . . g.15451
CCACTCTGGATCCTGGGCGACGTCTTCATCGGCCGCTACTACACTGTGTTTGACCGTGAC c.1200
P L W I L G D V F I G R Y Y T V F D R D p.400
. . . g.15490
AACAACAGGGTGGGCTTCGCCGAGGCTGCCCGCCTCTAG c.1239
N N R V G F A E A A R L X p.412
. . . . . . g.15550
ttcccaaggcgtccgcgcgccagcacagaaacagaggagagtcccagagcaggaggcccc c.*60
. . . . . . g.15610
tggcccagcggcccctcccacacacacccacacactcgcccgcccactgtcctgggcgcc c.*120
. . . . . . g.15670
ctggaagccggcggcccaagcccgacttgctgttttgttctgtggttttcccctccctgg c.*180
. . . . . . g.15730
gttcagaaatgctgcctgcctgtctgtctctccatctgtttggtgggggtagagctgatc c.*240
. . . . . . g.15790
cagagcacagatctgtttcgtgcattggaagaccccacccaagcttggcagccgagctcg c.*300
. . . . . . g.15850
tgtatcctggggctcccttcatctccagggagtcccctccccggccctaccagcgcccgc c.*360
. . . . . . g.15910
tgggctgagcccctaccccacaccaggccgtcctcccgggccctcccttggaaacctgcc c.*420
. . . . . . g.15970
ctgcctgagggcccctctgcccagcttgggcccagctgggctctgccaccctacctgttc c.*480
. . . . . . g.16030
agtgtcccgggcccgttgaggatgaggccgctagaggcctgaggatgagctggaaggagt c.*540
. . . . . . g.16090
gagaggggacaaaacccaccttgttggagcctgcagggtggtgctgggactgagccagtc c.*600
. . . . . . g.16150
ccaggggcatgtattggcctggaggtggggttgggattgggggctggtgccagccttcct c.*660
. . . . . . g.16210
ctgcagctgacctctgttgtcctccccttgggcggctgagagccccagctgacatggaaa c.*720
. . . g.16241
tacagttgttggcctccggcctcccctctgt c.*751
(downstream sequence)
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