Canonical Allele Identifier: CA005835

Gene: DSP

Linked Data

• ClinVar Variation Id: 179994
• ClinVar RCV Id: RCV000156797 ; RCV001232357 ; RCV002336339
• dbSNP Id: rs727505271
• MyVariant Identifiers: chr6:g.7579949del (hg19) ; chr6:g.7579716del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579716del , CM000668.2:g.7579716del	GRCh38
NC_000006.11:g.7579949del , CM000668.1:g.7579949del	GRCh37
NC_000006.10:g.7524948del	NCBI36
NG_008803.1:g.43080del , LRG_423:g.43080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3526del	ENSP00000518230.1:p.Val1176PhefsTer20
ENST00000379802.8:c.3526del MANE Select	ENSP00000369129.3:p.Val1176PhefsTer20
ENST00000379802.7:c.3526del	ENSP00000369129.3:p.Val1176PhefsTer20
ENST00000418664.2:c.3526del	ENSP00000396591.2:p.Val1176PhefsTer?
NM_001008844.1:c.3526del	NP_001008844.1:p.Val1176PhefsTer?
NM_004415.2:c.3526del , LRG_423t1:c.3526del	NP_004406.2:p.Val1176PhefsTer20
XM_011514323.1:c.3526del	XP_011512625.1:p.Val1176PhefsTer20
NM_001008844.2:c.3526del	NP_001008844.1:p.Val1176PhefsTer?
NM_001319034.1:c.3526del	NP_001305963.1:p.Val1176PhefsTer20
NM_004415.3:c.3526del	NP_004406.2:p.Val1176PhefsTer20
NM_004415.4:c.3526del MANE Select	NP_004406.2:p.Val1176PhefsTer20
NM_001008844.3:c.3526del	NP_001008844.1:p.Val1176PhefsTer?
NM_001319034.2:c.3526del	NP_001305963.1:p.Val1176PhefsTer20