Canonical Allele Identifier: CA005899

Gene: DSP

Linked Data

• ClinVar Variation Id: 199921
• ClinVar RCV Id: RCV000181365 ; RCV003765111
• dbSNP Id: rs794728142
• gnomAD v4: 6-7579920-AG-A
• MyVariant Identifiers: chr6:g.7580156del (hg19) ; chr6:g.7579923del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579923del , CM000668.2:g.7579923del	GRCh38
NC_000006.11:g.7580156del , CM000668.1:g.7580156del	GRCh37
NC_000006.10:g.7525155del	NCBI36
NG_008803.1:g.43287del , LRG_423:g.43287del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3733del	ENSP00000518230.1:p.Glu1245LysfsTer5
ENST00000379802.8:c.3733del MANE Select	ENSP00000369129.3:p.Glu1245LysfsTer5
ENST00000379802.7:c.3733del	ENSP00000369129.3:p.Glu1245LysfsTer5
ENST00000418664.2:c.3582+151del	ENSP00000396591.2:n.3582+151del
NM_001008844.1:c.3582+151del	NP_001008844.1:n.3582+151del
NM_004415.2:c.3733del , LRG_423t1:c.3733del	NP_004406.2:p.Glu1245LysfsTer5
XM_011514323.1:c.3733del	XP_011512625.1:p.Glu1245LysfsTer5
NM_001008844.2:c.3582+151del	NP_001008844.1:n.3582+151del
NM_001319034.1:c.3733del	NP_001305963.1:p.Glu1245LysfsTer5
NM_004415.3:c.3733del	NP_004406.2:p.Glu1245LysfsTer5
NM_004415.4:c.3733del MANE Select	NP_004406.2:p.Glu1245LysfsTer5
NM_001008844.3:c.3582+151del	NP_001008844.1:n.3582+151del
NM_001319034.2:c.3733del	NP_001305963.1:p.Glu1245LysfsTer5