Canonical Allele Identifier: CA2573140925

Gene: DSP

Linked Data

• ClinVar Variation Id: 1551832
• ClinVar RCV Id: RCV002178042
• dbSNP Id: rs2113669114
• gnomAD v4: 6-7565344-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7565344G>A , CM000668.2:g.7565344G>A	GRCh38
NC_000006.11:g.7565577G>A , CM000668.1:g.7565577G>A	GRCh37
NC_000006.10:g.7510576G>A	NCBI36
NG_008803.1:g.28708G>A , LRG_423:g.28708G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.778-15G>A	ENSP00000518230.1:n.778-15G>A
ENST00000682228.1:n.87G>A
ENST00000379802.8:c.778-15G>A MANE Select	ENSP00000369129.3:n.778-15G>A
ENST00000379802.7:c.778-15G>A	ENSP00000369129.3:n.778-15G>A
ENST00000418664.2:c.778-15G>A	ENSP00000396591.2:n.778-15G>A
ENST00000506617.1:n.296-15G>A
NM_001008844.1:c.778-15G>A	NP_001008844.1:n.778-15G>A
NM_004415.2:c.778-15G>A , LRG_423t1:c.778-15G>A	NP_004406.2:n.778-15G>A
XM_011514323.1:c.778-15G>A	XP_011512625.1:n.778-15G>A
NM_001008844.2:c.778-15G>A	NP_001008844.1:n.778-15G>A
NM_001319034.1:c.778-15G>A	NP_001305963.1:n.778-15G>A
NM_004415.3:c.778-15G>A	NP_004406.2:n.778-15G>A
NM_004415.4:c.778-15G>A MANE Select	NP_004406.2:n.778-15G>A
NM_001008844.3:c.778-15G>A	NP_001008844.1:n.778-15G>A
NM_001319034.2:c.778-15G>A	NP_001305963.1:n.778-15G>A