Canonical Allele Identifier: CA565358151

Gene: DSP

Linked Data

• ClinVar Variation Id: 938798
• ClinVar RCV Id: RCV001208089
• dbSNP Id: rs1561701244
• gnomAD v2: 6-7583180-TAGG-T
• gnomAD v3: 6-7582947-TAGG-T
• gnomAD v4: 6-7582947-TAGG-T
• MyVariant Identifiers: chr6:g.7583181_7583183del (hg19) ; chr6:g.7582948_7582950del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7582950_7582952del , CM000668.2:g.7582950_7582952del	GRCh38
NC_000006.11:g.7583183_7583185del , CM000668.1:g.7583183_7583185del	GRCh37
NC_000006.10:g.7528182_7528184del	NCBI36
NG_008803.1:g.46314_46316del , LRG_423:g.46314_46316del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4359_4361del	ENSP00000518230.1:p.Arg1453del
ENST00000379802.8:c.5688_5690del MANE Select	ENSP00000369129.3:p.Arg1896del
ENST00000379802.7:c.5688_5690del	ENSP00000369129.3:p.Arg1896del
ENST00000418664.2:c.3891_3893del	ENSP00000396591.2:p.Arg1297del
NM_001008844.1:c.3891_3893del	NP_001008844.1:p.Arg1297del
NM_004415.2:c.5688_5690del , LRG_423t1:c.5688_5690del	NP_004406.2:p.Arg1896del
XM_011514323.1:c.4359_4361del	XP_011512625.1:p.Arg1453del
NM_001008844.2:c.3891_3893del	NP_001008844.1:p.Arg1297del
NM_001319034.1:c.4359_4361del	NP_001305963.1:p.Arg1453del
NM_004415.3:c.5688_5690del	NP_004406.2:p.Arg1896del
NM_004415.4:c.5688_5690del MANE Select	NP_004406.2:p.Arg1896del
NM_001008844.3:c.3891_3893del	NP_001008844.1:p.Arg1297del
NM_001319034.2:c.4359_4361del	NP_001305963.1:p.Arg1453del