Canonical Allele Identifier: CA851936027

Gene: CSMD1

Linked Data

• dbSNP Id: rs1395885623
• gnomAD v3: 8-4285433-T-TA
• gnomAD v4: 8-4285433-T-TA
• MyVariant Identifiers: chr8:g.4142955_4142956insA (hg19) ; chr8:g.4285433_4285434insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.4285434dup , CM000670.2:g.4285434dup	GRCh38
NC_000008.10:g.4142956dup , CM000670.1:g.4142956dup	GRCh37
NC_000008.9:g.4130364dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000635120.2:c.415+134519dup MANE Select	ENSP00000489225.1:n.415+134519dup
ENST00000400186.7:c.415+134519dup	ENSP00000383047.3:n.415+134519dup
ENST00000520002.5:c.415+134519dup	ENSP00000430733.1:n.415+134519dup
ENST00000602557.5:c.415+134519dup	ENSP00000473359.1:n.415+134519dup
ENST00000602723.5:c.415+134519dup	ENSP00000473617.1:n.415+134519dup
ENST00000635120.1:c.415+134519dup	ENSP00000489225.1:n.415+134519dup
NM_033225.5:c.415+134519dup	NP_150094.5:n.415+134519dup
XM_011534752.1:c.415+134519dup	XP_011533054.1:n.415+134519dup
XM_011534752.2:c.415+134519dup	XP_011533054.1:n.415+134519dup
XM_017013731.1:c.415+134519dup	XP_016869220.1:n.415+134519dup
NM_033225.6:c.415+134519dup MANE Select	NP_150094.5:n.415+134519dup