Canonical Allele Identifier: CA1759352078
Gene: CSMD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.4427486_4427490delinsAATAC , CM000670.2:g.4427486_4427490delinsAATAC GRCh38
NC_000008.10:g.4285008_4285012delinsAATAC , CM000670.1:g.4285008_4285012delinsAATAC GRCh37
NC_000008.9:g.4272416_4272420delinsAATAC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000635120.2:c.303-7425_303-7421delinsGTATT MANE Select ENSP00000489225.1:n.303-7425_303-7421delinsGTATT
ENST00000400186.7:c.303-7425_303-7421delinsGTATT ENSP00000383047.3:n.303-7425_303-7421delinsGTATT
ENST00000520002.5:c.303-7425_303-7421delinsGTATT ENSP00000430733.1:n.303-7425_303-7421delinsGTATT
ENST00000602557.5:c.303-7425_303-7421delinsGTATT ENSP00000473359.1:n.303-7425_303-7421delinsGTATT
ENST00000602723.5:c.303-7425_303-7421delinsGTATT ENSP00000473617.1:n.303-7425_303-7421delinsGTATT
ENST00000635120.1:c.303-7425_303-7421delinsGTATT ENSP00000489225.1:n.303-7425_303-7421delinsGTATT
NM_033225.5:c.303-7425_303-7421delinsGTATT NP_150094.5:n.303-7425_303-7421delinsGTATT
XM_011534752.1:c.303-7425_303-7421delinsGTATT XP_011533054.1:n.303-7425_303-7421delinsGTATT
XM_011534752.2:c.303-7425_303-7421delinsGTATT XP_011533054.1:n.303-7425_303-7421delinsGTATT
XM_017013731.1:c.303-7425_303-7421delinsGTATT XP_016869220.1:n.303-7425_303-7421delinsGTATT
NM_033225.6:c.303-7425_303-7421delinsGTATT MANE Select NP_150094.5:n.303-7425_303-7421delinsGTATT