Canonical Allele Identifier: CA051983

Gene: DSP

Linked Data

• ClinVar Variation Id: 1052135
• ClinVar RCV Id: RCV001360261 ; RCV004036758
• dbSNP Id: rs756925801
• ExAC: 6:7585783 G / GGCTT
• gnomAD v2: 6-7585783-G-GGCTT
• gnomAD v4: 6-7585550-G-GGCTT
• MyVariant Identifiers: chr6:g.7585783_7585784insGCTT (hg19) ; chr6:g.7585550_7585551insGCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585553_7585554insTGCT , CM000668.2:g.7585553_7585554insTGCT	GRCh38
NC_000006.11:g.7585786_7585787insTGCT , CM000668.1:g.7585786_7585787insTGCT	GRCh37
NC_000006.10:g.7530785_7530786insTGCT	NCBI36
NG_008803.1:g.48917_48918insTGCT , LRG_423:g.48917_48918insTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6962_6963insTGCT	ENSP00000518230.1:p.Gln2322AlafsTer23
ENST00000379802.8:c.8291_8292insTGCT MANE Select	ENSP00000369129.3:p.Gln2765AlafsTer23
ENST00000379802.7:c.8291_8292insTGCT	ENSP00000369129.3:p.Gln2765AlafsTer23
ENST00000418664.2:c.6494_6495insTGCT	ENSP00000396591.2:p.Gln2166AlafsTer23
NM_001008844.1:c.6494_6495insTGCT	NP_001008844.1:p.Gln2166AlafsTer23
NM_004415.2:c.8291_8292insTGCT , LRG_423t1:c.8291_8292insTGCT	NP_004406.2:p.Gln2765AlafsTer23
XM_011514323.1:c.6962_6963insTGCT	XP_011512625.1:p.Gln2322AlafsTer23
NM_001008844.2:c.6494_6495insTGCT	NP_001008844.1:p.Gln2166AlafsTer23
NM_001319034.1:c.6962_6963insTGCT	NP_001305963.1:p.Gln2322AlafsTer23
NM_004415.3:c.8291_8292insTGCT	NP_004406.2:p.Gln2765AlafsTer23
NM_004415.4:c.8291_8292insTGCT MANE Select	NP_004406.2:p.Gln2765AlafsTer23
NM_001008844.3:c.6494_6495insTGCT	NP_001008844.1:p.Gln2166AlafsTer23
NM_001319034.2:c.6962_6963insTGCT	NP_001305963.1:p.Gln2322AlafsTer23