Canonical Allele Identifier: CA2580075347
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 2442877
ClinVar RCV Id: RCV003150683

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7565382_7565401dup , CM000668.2:g.7565382_7565401dup GRCh38
NC_000006.11:g.7565615_7565634dup , CM000668.1:g.7565615_7565634dup GRCh37
NC_000006.10:g.7510614_7510633dup NCBI36
NG_008803.1:g.28746_28765dup , LRG_423:g.28746_28765dup

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.801_820dup ENSP00000518230.1:p.Asn274IlefsTer?
ENST00000682228.1:n.125_144dup
ENST00000379802.8:c.801_820dup MANE Select ENSP00000369129.3:p.Asn274IlefsTer?
ENST00000379802.7:c.801_820dup ENSP00000369129.3:p.Asn274IlefsTer?
ENST00000418664.2:c.801_820dup ENSP00000396591.2:p.Asn274IlefsTer?
ENST00000506617.1:n.319_338dup
NM_001008844.1:c.801_820dup NP_001008844.1:p.Asn274IlefsTer?
NM_004415.2:c.801_820dup , LRG_423t1:c.801_820dup NP_004406.2:p.Asn274IlefsTer?
XM_011514323.1:c.801_820dup XP_011512625.1:p.Asn274IlefsTer?
NM_001008844.2:c.801_820dup NP_001008844.1:p.Asn274IlefsTer?
NM_001319034.1:c.801_820dup NP_001305963.1:p.Asn274IlefsTer?
NM_004415.3:c.801_820dup NP_004406.2:p.Asn274IlefsTer?
NM_004415.4:c.801_820dup MANE Select NP_004406.2:p.Asn274IlefsTer?
NM_001008844.3:c.801_820dup NP_001008844.1:p.Asn274IlefsTer?
NM_001319034.2:c.801_820dup NP_001305963.1:p.Asn274IlefsTer?