Canonical Allele Identifier: CA913187583

Gene: DSP

Linked Data

• ClinVar Variation Id: 922148
• ClinVar RCV Id: RCV001182045
• dbSNP Id: rs1758933837

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7568556del , CM000668.2:g.7568556del	GRCh38
NC_000006.11:g.7568789del , CM000668.1:g.7568789del	GRCh37
NC_000006.10:g.7513788del	NCBI36
NG_008803.1:g.31920del , LRG_423:g.31920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.1386del	ENSP00000518230.1:p.Leu463SerfsTer22
ENST00000379802.8:c.1386del MANE Select	ENSP00000369129.3:p.Leu463SerfsTer22
ENST00000379802.7:c.1386del	ENSP00000369129.3:p.Leu463SerfsTer22
ENST00000418664.2:c.1386del	ENSP00000396591.2:p.Leu463SerfsTer22
NM_001008844.1:c.1386del	NP_001008844.1:p.Leu463SerfsTer22
NM_004415.2:c.1386del , LRG_423t1:c.1386del	NP_004406.2:p.Leu463SerfsTer22
XM_011514323.1:c.1386del	XP_011512625.1:p.Leu463SerfsTer22
NM_001008844.2:c.1386del	NP_001008844.1:p.Leu463SerfsTer22
NM_001319034.1:c.1386del	NP_001305963.1:p.Leu463SerfsTer22
NM_004415.3:c.1386del	NP_004406.2:p.Leu463SerfsTer22
NM_004415.4:c.1386del MANE Select	NP_004406.2:p.Leu463SerfsTer22
NM_001008844.3:c.1386del	NP_001008844.1:p.Leu463SerfsTer22
NM_001319034.2:c.1386del	NP_001305963.1:p.Leu463SerfsTer22