Canonical Allele Identifier: CA1109951119

Gene: CSMD1

Linked Data

• gnomAD v3: 8-4427546-A-AAT
• gnomAD v4: 8-4427546-A-AAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.4427546_4427547insAT , CM000670.2:g.4427546_4427547insAT	GRCh38
NC_000008.10:g.4285068_4285069insAT , CM000670.1:g.4285068_4285069insAT	GRCh37
NC_000008.9:g.4272476_4272477insAT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000635120.2:c.303-7482_303-7481insAT MANE Select	ENSP00000489225.1:n.303-7482_303-7481insAT
ENST00000400186.7:c.303-7482_303-7481insAT	ENSP00000383047.3:n.303-7482_303-7481insAT
ENST00000520002.5:c.303-7482_303-7481insAT	ENSP00000430733.1:n.303-7482_303-7481insAT
ENST00000602557.5:c.303-7482_303-7481insAT	ENSP00000473359.1:n.303-7482_303-7481insAT
ENST00000602723.5:c.303-7482_303-7481insAT	ENSP00000473617.1:n.303-7482_303-7481insAT
ENST00000635120.1:c.303-7482_303-7481insAT	ENSP00000489225.1:n.303-7482_303-7481insAT
NM_033225.5:c.303-7482_303-7481insAT	NP_150094.5:n.303-7482_303-7481insAT
XM_011534752.1:c.303-7482_303-7481insAT	XP_011533054.1:n.303-7482_303-7481insAT
XM_011534752.2:c.303-7482_303-7481insAT	XP_011533054.1:n.303-7482_303-7481insAT
XM_017013731.1:c.303-7482_303-7481insAT	XP_016869220.1:n.303-7482_303-7481insAT
NM_033225.6:c.303-7482_303-7481insAT MANE Select	NP_150094.5:n.303-7482_303-7481insAT