Canonical Allele Identifier: CA362673884

Gene: DSP

Linked Data

• ClinVar Variation Id: 581651
• ClinVar RCV Id: RCV000705542 ; RCV003362918 ; RCV004017722
• dbSNP Id: rs113726158
• gnomAD v4: 6-7565357-A-G
• MyVariant Identifiers: chr6:g.7565590A>G (hg19) ; chr6:g.7565357A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7565357A>G , CM000668.2:g.7565357A>G	GRCh38
NC_000006.11:g.7565590A>G , CM000668.1:g.7565590A>G	GRCh37
NC_000006.10:g.7510589A>G	NCBI36
NG_008803.1:g.28721A>G , LRG_423:g.28721A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.778-2A>G	ENSP00000518230.1:n.778-2A>G
ENST00000682228.1:n.100A>G
ENST00000379802.8:c.778-2A>G MANE Select	ENSP00000369129.3:n.778-2A>G
ENST00000379802.7:c.778-2A>G	ENSP00000369129.3:n.778-2A>G
ENST00000418664.2:c.778-2A>G	ENSP00000396591.2:n.778-2A>G
ENST00000506617.1:n.296-2A>G
NM_001008844.1:c.778-2A>G	NP_001008844.1:n.778-2A>G
NM_004415.2:c.778-2A>G , LRG_423t1:c.778-2A>G	NP_004406.2:n.778-2A>G
XM_011514323.1:c.778-2A>G	XP_011512625.1:n.778-2A>G
NM_001008844.2:c.778-2A>G	NP_001008844.1:n.778-2A>G
NM_001319034.1:c.778-2A>G	NP_001305963.1:n.778-2A>G
NM_004415.3:c.778-2A>G	NP_004406.2:n.778-2A>G
NM_004415.4:c.778-2A>G MANE Select	NP_004406.2:n.778-2A>G
NM_001008844.3:c.778-2A>G	NP_001008844.1:n.778-2A>G
NM_001319034.2:c.778-2A>G	NP_001305963.1:n.778-2A>G