Canonical Allele Identifier: CA579403371

Gene: CSMD1

Linked Data

• dbSNP Id: rs1415209692
• gnomAD v2: 8-4285008-AATAC-A
• gnomAD v3: 8-4427486-AATAC-A
• gnomAD v4: 8-4427486-AATAC-A
• MyVariant Identifiers: chr8:g.4285009_4285012del (hg19) ; chr8:g.4427487_4427490del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.4427488_4427491del , CM000670.2:g.4427488_4427491del	GRCh38
NC_000008.10:g.4285010_4285013del , CM000670.1:g.4285010_4285013del	GRCh37
NC_000008.9:g.4272418_4272421del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000635120.2:c.303-7425_303-7422del MANE Select	ENSP00000489225.1:n.303-7425_303-7422del
ENST00000400186.7:c.303-7425_303-7422del	ENSP00000383047.3:n.303-7425_303-7422del
ENST00000520002.5:c.303-7425_303-7422del	ENSP00000430733.1:n.303-7425_303-7422del
ENST00000602557.5:c.303-7425_303-7422del	ENSP00000473359.1:n.303-7425_303-7422del
ENST00000602723.5:c.303-7425_303-7422del	ENSP00000473617.1:n.303-7425_303-7422del
ENST00000635120.1:c.303-7425_303-7422del	ENSP00000489225.1:n.303-7425_303-7422del
NM_033225.5:c.303-7425_303-7422del	NP_150094.5:n.303-7425_303-7422del
XM_011534752.1:c.303-7425_303-7422del	XP_011533054.1:n.303-7425_303-7422del
XM_011534752.2:c.303-7425_303-7422del	XP_011533054.1:n.303-7425_303-7422del
XM_017013731.1:c.303-7425_303-7422del	XP_016869220.1:n.303-7425_303-7422del
NM_033225.6:c.303-7425_303-7422del MANE Select	NP_150094.5:n.303-7425_303-7422del