Canonical Allele Identifier: CA005795
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 199919
ClinVar RCV Id: RCV000181363
dbSNP Id: rs794728140
MyVariant Identifiers: chr6:g.7579842del (hg19) chr6:g.7579609del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7579609del , CM000668.2:g.7579609del GRCh38
NC_000006.11:g.7579842del , CM000668.1:g.7579842del GRCh37
NC_000006.10:g.7524841del NCBI36
NG_008803.1:g.42973del , LRG_423:g.42973del

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.3419del ENSP00000518230.1:p.Asp1140AlafsTer19
ENST00000379802.8:c.3419del MANE Select ENSP00000369129.3:p.Asp1140AlafsTer19
ENST00000379802.7:c.3419del ENSP00000369129.3:p.Asp1140AlafsTer19
ENST00000418664.2:c.3419del ENSP00000396591.2:p.Asp1140AlafsTer19
NM_001008844.1:c.3419del NP_001008844.1:p.Asp1140AlafsTer19
NM_004415.2:c.3419del , LRG_423t1:c.3419del NP_004406.2:p.Asp1140AlafsTer19
XM_011514323.1:c.3419del XP_011512625.1:p.Asp1140AlafsTer19
NM_001008844.2:c.3419del NP_001008844.1:p.Asp1140AlafsTer19
NM_001319034.1:c.3419del NP_001305963.1:p.Asp1140AlafsTer19
NM_004415.3:c.3419del NP_004406.2:p.Asp1140AlafsTer19
NM_004415.4:c.3419del MANE Select NP_004406.2:p.Asp1140AlafsTer19
NM_001008844.3:c.3419del NP_001008844.1:p.Asp1140AlafsTer19
NM_001319034.2:c.3419del NP_001305963.1:p.Asp1140AlafsTer19
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