Canonical Allele Identifier: CA1554416493
Gene: CARTPT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719359_71719360delinsGT , CM000667.2:g.71719359_71719360delinsGT GRCh38
NC_000005.9:g.71015186_71015187delinsGT , CM000667.1:g.71015186_71015187delinsGT GRCh37
NC_000005.8:g.71050942_71050943delinsGT NCBI36
NG_015988.1:g.5197_5198delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.66_67delinsGT MANE Select ENSP00000296777.4:p.Leu22=
ENST00000296777.4:c.66_67delinsGT ENSP00000296777.4:p.Leu22=
NM_004291.3:c.66_67delinsGT NP_004282.1:p.Leu22=
NM_004291.4:c.66_67delinsGT MANE Select NP_004282.1:p.Leu22=