Canonical Allele Identifier: CA1554416403
Gene: CARTPT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719329_71719332delinsGGGC , CM000667.2:g.71719329_71719332delinsGGGC GRCh38
NC_000005.9:g.71015156_71015159delinsGGGC , CM000667.1:g.71015156_71015159delinsGGGC GRCh37
NC_000005.8:g.71050912_71050915delinsGGGC NCBI36
NG_015988.1:g.5167_5170delinsGGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.36_39delinsGGGC MANE Select ENSP00000296777.4:p.Leu12=
ENST00000296777.4:c.36_39delinsGGGC ENSP00000296777.4:p.Leu12=
NM_004291.3:c.36_39delinsGGGC NP_004282.1:p.Leu12=
NM_004291.4:c.36_39delinsGGGC MANE Select NP_004282.1:p.Leu12=