Canonical Allele Identifier: CA852147793

Gene: CSMD1

Linked Data

• dbSNP Id: rs1302021406
• MyVariant Identifiers: chr8:g.4285527_4285528insCCA (hg19) ; chr8:g.4428005_4428006insCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.4428006_4428008dup , CM000670.2:g.4428006_4428008dup	GRCh38
NC_000008.10:g.4285528_4285530dup , CM000670.1:g.4285528_4285530dup	GRCh37
NC_000008.9:g.4272936_4272938dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000635120.2:c.303-7943_303-7941dup MANE Select	ENSP00000489225.1:n.303-7943_303-7941dup
ENST00000400186.7:c.303-7943_303-7941dup	ENSP00000383047.3:n.303-7943_303-7941dup
ENST00000520002.5:c.303-7943_303-7941dup	ENSP00000430733.1:n.303-7943_303-7941dup
ENST00000602557.5:c.303-7943_303-7941dup	ENSP00000473359.1:n.303-7943_303-7941dup
ENST00000602723.5:c.303-7943_303-7941dup	ENSP00000473617.1:n.303-7943_303-7941dup
ENST00000635120.1:c.303-7943_303-7941dup	ENSP00000489225.1:n.303-7943_303-7941dup
NM_033225.5:c.303-7943_303-7941dup	NP_150094.5:n.303-7943_303-7941dup
XM_011534752.1:c.303-7943_303-7941dup	XP_011533054.1:n.303-7943_303-7941dup
XM_011534752.2:c.303-7943_303-7941dup	XP_011533054.1:n.303-7943_303-7941dup
XM_017013731.1:c.303-7943_303-7941dup	XP_016869220.1:n.303-7943_303-7941dup
NM_033225.6:c.303-7943_303-7941dup MANE Select	NP_150094.5:n.303-7943_303-7941dup