Canonical Allele Identifier: CA1608615432

Gene: DSP

Linked Data

• ClinVar Variation Id: 1019065
• ClinVar RCV Id: RCV001318450
• dbSNP Id: rs1759642975
• gnomAD v4: 6-7585725-GGCTCCGGGGTCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585733_7585745del , CM000668.2:g.7585733_7585745del	GRCh38
NC_000006.11:g.7585966_7585978del , CM000668.1:g.7585966_7585978del	GRCh37
NC_000006.10:g.7530965_7530977del	NCBI36
NG_008803.1:g.49097_49109del , LRG_423:g.49097_49109del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.7142_7154del	ENSP00000518230.1:p.Gly2381AlafsTer?
ENST00000379802.8:c.8471_8483del MANE Select	ENSP00000369129.3:p.Gly2824AlafsTer?
ENST00000379802.7:c.8471_8483del	ENSP00000369129.3:p.Gly2824AlafsTer?
ENST00000418664.2:c.6674_6686del	ENSP00000396591.2:p.Gly2225AlafsTer?
NM_001008844.1:c.6674_6686del	NP_001008844.1:p.Gly2225AlafsTer?
NM_004415.2:c.8471_8483del , LRG_423t1:c.8471_8483del	NP_004406.2:p.Gly2824AlafsTer?
XM_011514323.1:c.7142_7154del	XP_011512625.1:p.Gly2381AlafsTer?
NM_001008844.2:c.6674_6686del	NP_001008844.1:p.Gly2225AlafsTer?
NM_001319034.1:c.7142_7154del	NP_001305963.1:p.Gly2381AlafsTer?
NM_004415.3:c.8471_8483del	NP_004406.2:p.Gly2824AlafsTer?
NM_004415.4:c.8471_8483del MANE Select	NP_004406.2:p.Gly2824AlafsTer?
NM_001008844.3:c.6674_6686del	NP_001008844.1:p.Gly2225AlafsTer?
NM_001319034.2:c.7142_7154del	NP_001305963.1:p.Gly2381AlafsTer?