Canonical Allele Identifier: CA2573140790

Gene: DSP

Linked Data

• ClinVar Variation Id: 1677217
• ClinVar RCV Id: RCV002223075
• dbSNP Id: rs2113691213

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579355del , CM000668.2:g.7579355del	GRCh38
NC_000006.11:g.7579588del , CM000668.1:g.7579588del	GRCh37
NC_000006.10:g.7524587del	NCBI36
NG_008803.1:g.42719del , LRG_423:g.42719del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3165del	ENSP00000518230.1:p.Asn1055LysfsTer28
ENST00000379802.8:c.3165del MANE Select	ENSP00000369129.3:p.Asn1055LysfsTer28
ENST00000379802.7:c.3165del	ENSP00000369129.3:p.Asn1055LysfsTer28
ENST00000418664.2:c.3165del	ENSP00000396591.2:p.Asn1055LysfsTer28
NM_001008844.1:c.3165del	NP_001008844.1:p.Asn1055LysfsTer28
NM_004415.2:c.3165del , LRG_423t1:c.3165del	NP_004406.2:p.Asn1055LysfsTer28
XM_011514323.1:c.3165del	XP_011512625.1:p.Asn1055LysfsTer28
NM_001008844.2:c.3165del	NP_001008844.1:p.Asn1055LysfsTer28
NM_001319034.1:c.3165del	NP_001305963.1:p.Asn1055LysfsTer28
NM_004415.3:c.3165del	NP_004406.2:p.Asn1055LysfsTer28
NM_004415.4:c.3165del MANE Select	NP_004406.2:p.Asn1055LysfsTer28
NM_001008844.3:c.3165del	NP_001008844.1:p.Asn1055LysfsTer28
NM_001319034.2:c.3165del	NP_001305963.1:p.Asn1055LysfsTer28