Canonical Allele Identifier: CA005763

Gene: DSP

Linked Data

• ClinVar Variation Id: 44892
• ClinVar RCV Id: RCV000038027 ; RCV000480618 ; RCV001852796
• dbSNP Id: rs397516932
• MyVariant Identifiers: chr6:g.7579583_7579592del (hg19) ; chr6:g.7579350_7579359del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579350_7579359del , CM000668.2:g.7579350_7579359del	GRCh38
NC_000006.11:g.7579583_7579592del , CM000668.1:g.7579583_7579592del	GRCh37
NC_000006.10:g.7524582_7524591del	NCBI36
NG_008803.1:g.42714_42723del , LRG_423:g.42714_42723del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3160_3169del	ENSP00000518230.1:p.Lys1054SerfsTer26
ENST00000379802.8:c.3160_3169del MANE Select	ENSP00000369129.3:p.Lys1054SerfsTer26
ENST00000379802.7:c.3160_3169del	ENSP00000369129.3:p.Lys1054SerfsTer26
ENST00000418664.2:c.3160_3169del	ENSP00000396591.2:p.Lys1054SerfsTer26
NM_001008844.1:c.3160_3169del	NP_001008844.1:p.Lys1054SerfsTer26
NM_004415.2:c.3160_3169del , LRG_423t1:c.3160_3169del	NP_004406.2:p.Lys1054SerfsTer26
XM_011514323.1:c.3160_3169del	XP_011512625.1:p.Lys1054SerfsTer26
NM_001008844.2:c.3160_3169del	NP_001008844.1:p.Lys1054SerfsTer26
NM_001319034.1:c.3160_3169del	NP_001305963.1:p.Lys1054SerfsTer26
NM_004415.3:c.3160_3169del	NP_004406.2:p.Lys1054SerfsTer26
NM_004415.4:c.3160_3169del MANE Select	NP_004406.2:p.Lys1054SerfsTer26
NM_001008844.3:c.3160_3169del	NP_001008844.1:p.Lys1054SerfsTer26
NM_001319034.2:c.3160_3169del	NP_001305963.1:p.Lys1054SerfsTer26