Canonical Allele Identifier: CA171047467

Gene: CSMD1

Linked Data

• dbSNP Id: rs3056569
• gnomAD v2: 8-4285010-T-TAC
• gnomAD v3: 8-4427488-T-TAC
• gnomAD v4: 8-4427488-T-TAC
• MyVariant Identifiers: chr8:g.4285020_4285021insAC (hg19) ; chr8:g.4285010_4285011insAC (hg19) ; chr8:g.4427498_4427499insAC (hg38) ; chr8:g.4427488_4427489insAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.4427512_4427513dup , CM000670.2:g.4427512_4427513dup	GRCh38
NC_000008.10:g.4285034_4285035dup , CM000670.1:g.4285034_4285035dup	GRCh37
NC_000008.9:g.4272442_4272443dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000635120.2:c.303-7425_303-7424dup MANE Select	ENSP00000489225.1:n.303-7425_303-7424dup
ENST00000400186.7:c.303-7425_303-7424dup	ENSP00000383047.3:n.303-7425_303-7424dup
ENST00000520002.5:c.303-7425_303-7424dup	ENSP00000430733.1:n.303-7425_303-7424dup
ENST00000602557.5:c.303-7425_303-7424dup	ENSP00000473359.1:n.303-7425_303-7424dup
ENST00000602723.5:c.303-7425_303-7424dup	ENSP00000473617.1:n.303-7425_303-7424dup
ENST00000635120.1:c.303-7425_303-7424dup	ENSP00000489225.1:n.303-7425_303-7424dup
NM_033225.5:c.303-7425_303-7424dup	NP_150094.5:n.303-7425_303-7424dup
XM_011534752.1:c.303-7425_303-7424dup	XP_011533054.1:n.303-7425_303-7424dup
XM_011534752.2:c.303-7425_303-7424dup	XP_011533054.1:n.303-7425_303-7424dup
XM_017013731.1:c.303-7425_303-7424dup	XP_016869220.1:n.303-7425_303-7424dup
NM_033225.6:c.303-7425_303-7424dup MANE Select	NP_150094.5:n.303-7425_303-7424dup