Canonical Allele Identifier: CA1759352635
Gene: CSMD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.4428073_4428078delinsTTCATA , CM000670.2:g.4428073_4428078delinsTTCATA GRCh38
NC_000008.10:g.4285595_4285600delinsTTCATA , CM000670.1:g.4285595_4285600delinsTTCATA GRCh37
NC_000008.9:g.4273003_4273008delinsTTCATA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000635120.2:c.303-8013_303-8008delinsTATGAA MANE Select ENSP00000489225.1:n.303-8013_303-8008delinsTATGAA
ENST00000400186.7:c.303-8013_303-8008delinsTATGAA ENSP00000383047.3:n.303-8013_303-8008delinsTATGAA
ENST00000520002.5:c.303-8013_303-8008delinsTATGAA ENSP00000430733.1:n.303-8013_303-8008delinsTATGAA
ENST00000602557.5:c.303-8013_303-8008delinsTATGAA ENSP00000473359.1:n.303-8013_303-8008delinsTATGAA
ENST00000602723.5:c.303-8013_303-8008delinsTATGAA ENSP00000473617.1:n.303-8013_303-8008delinsTATGAA
ENST00000635120.1:c.303-8013_303-8008delinsTATGAA ENSP00000489225.1:n.303-8013_303-8008delinsTATGAA
NM_033225.5:c.303-8013_303-8008delinsTATGAA NP_150094.5:n.303-8013_303-8008delinsTATGAA
XM_011534752.1:c.303-8013_303-8008delinsTATGAA XP_011533054.1:n.303-8013_303-8008delinsTATGAA
XM_011534752.2:c.303-8013_303-8008delinsTATGAA XP_011533054.1:n.303-8013_303-8008delinsTATGAA
XM_017013731.1:c.303-8013_303-8008delinsTATGAA XP_016869220.1:n.303-8013_303-8008delinsTATGAA
NM_033225.6:c.303-8013_303-8008delinsTATGAA MANE Select NP_150094.5:n.303-8013_303-8008delinsTATGAA