Canonical Allele Identifier: CA1759352075

Gene: CSMD1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.4427483_4427492delinsTCAAATACAC , CM000670.2:g.4427483_4427492delinsTCAAATACAC	GRCh38
NC_000008.10:g.4285005_4285014delinsTCAAATACAC , CM000670.1:g.4285005_4285014delinsTCAAATACAC	GRCh37
NC_000008.9:g.4272413_4272422delinsTCAAATACAC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000635120.2:c.303-7427_303-7418delinsGTGTATTTGA MANE Select	ENSP00000489225.1:n.303-7427_303-7418delinsGTGTATTTGA
ENST00000400186.7:c.303-7427_303-7418delinsGTGTATTTGA	ENSP00000383047.3:n.303-7427_303-7418delinsGTGTATTTGA
ENST00000520002.5:c.303-7427_303-7418delinsGTGTATTTGA	ENSP00000430733.1:n.303-7427_303-7418delinsGTGTATTTGA
ENST00000602557.5:c.303-7427_303-7418delinsGTGTATTTGA	ENSP00000473359.1:n.303-7427_303-7418delinsGTGTATTTGA
ENST00000602723.5:c.303-7427_303-7418delinsGTGTATTTGA	ENSP00000473617.1:n.303-7427_303-7418delinsGTGTATTTGA
ENST00000635120.1:c.303-7427_303-7418delinsGTGTATTTGA	ENSP00000489225.1:n.303-7427_303-7418delinsGTGTATTTGA
NM_033225.5:c.303-7427_303-7418delinsGTGTATTTGA	NP_150094.5:n.303-7427_303-7418delinsGTGTATTTGA
XM_011534752.1:c.303-7427_303-7418delinsGTGTATTTGA	XP_011533054.1:n.303-7427_303-7418delinsGTGTATTTGA
XM_011534752.2:c.303-7427_303-7418delinsGTGTATTTGA	XP_011533054.1:n.303-7427_303-7418delinsGTGTATTTGA
XM_017013731.1:c.303-7427_303-7418delinsGTGTATTTGA	XP_016869220.1:n.303-7427_303-7418delinsGTGTATTTGA
NM_033225.6:c.303-7427_303-7418delinsGTGTATTTGA MANE Select	NP_150094.5:n.303-7427_303-7418delinsGTGTATTTGA