Canonical Allele Identifier: CA039247

Gene: DSP

Linked Data

• dbSNP Id: rs752164609
• ExAC: 6:7580279 CAGA / C
• gnomAD v2: 6-7580279-CAGA-C
• gnomAD v4: 6-7580046-CAGA-C
• MyVariant Identifiers: chr6:g.7580280_7580282del (hg19) ; chr6:g.7580047_7580049del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7580052_7580054del , CM000668.2:g.7580052_7580054del	GRCh38
NC_000006.11:g.7580285_7580287del , CM000668.1:g.7580285_7580287del	GRCh37
NC_000006.10:g.7525284_7525286del	NCBI36
NG_008803.1:g.43416_43418del , LRG_423:g.43416_43418del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3862_3864del	ENSP00000518230.1:p.Lys1288del
ENST00000379802.8:c.3862_3864del MANE Select	ENSP00000369129.3:p.Lys1288del
ENST00000379802.7:c.3862_3864del	ENSP00000369129.3:p.Lys1288del
ENST00000418664.2:c.3582+280_3582+282del	ENSP00000396591.2:n.3582+280_3582+282del
NM_001008844.1:c.3582+280_3582+282del	NP_001008844.1:n.3582+280_3582+282del
NM_004415.2:c.3862_3864del , LRG_423t1:c.3862_3864del	NP_004406.2:p.Lys1288del
XM_011514323.1:c.3862_3864del	XP_011512625.1:p.Lys1288del
NM_001008844.2:c.3582+280_3582+282del	NP_001008844.1:n.3582+280_3582+282del
NM_001319034.1:c.3862_3864del	NP_001305963.1:p.Lys1288del
NM_004415.3:c.3862_3864del	NP_004406.2:p.Lys1288del
NM_004415.4:c.3862_3864del MANE Select	NP_004406.2:p.Lys1288del
NM_001008844.3:c.3582+280_3582+282del	NP_001008844.1:n.3582+280_3582+282del
NM_001319034.2:c.3862_3864del	NP_001305963.1:p.Lys1288del