Canonical Allele Identifier: CA1109951408

Gene: CSMD1

Linked Data

• dbSNP Id: rs1797666871
• gnomAD v3: 8-4428073-TTCATA-T
• gnomAD v4: 8-4428073-TTCATA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.4428077_4428081del , CM000670.2:g.4428077_4428081del	GRCh38
NC_000008.10:g.4285599_4285603del , CM000670.1:g.4285599_4285603del	GRCh37
NC_000008.9:g.4273007_4273011del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000635120.2:c.303-8013_303-8009del MANE Select	ENSP00000489225.1:n.303-8013_303-8009del
ENST00000400186.7:c.303-8013_303-8009del	ENSP00000383047.3:n.303-8013_303-8009del
ENST00000520002.5:c.303-8013_303-8009del	ENSP00000430733.1:n.303-8013_303-8009del
ENST00000602557.5:c.303-8013_303-8009del	ENSP00000473359.1:n.303-8013_303-8009del
ENST00000602723.5:c.303-8013_303-8009del	ENSP00000473617.1:n.303-8013_303-8009del
ENST00000635120.1:c.303-8013_303-8009del	ENSP00000489225.1:n.303-8013_303-8009del
NM_033225.5:c.303-8013_303-8009del	NP_150094.5:n.303-8013_303-8009del
XM_011534752.1:c.303-8013_303-8009del	XP_011533054.1:n.303-8013_303-8009del
XM_011534752.2:c.303-8013_303-8009del	XP_011533054.1:n.303-8013_303-8009del
XM_017013731.1:c.303-8013_303-8009del	XP_016869220.1:n.303-8013_303-8009del
NM_033225.6:c.303-8013_303-8009del MANE Select	NP_150094.5:n.303-8013_303-8009del