Canonical Allele Identifier: CA1554416297
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs1748652570

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719280_71719282del , CM000667.2:g.71719280_71719282del GRCh38
NC_000005.9:g.71015107_71015109del , CM000667.1:g.71015107_71015109del GRCh37
NC_000005.8:g.71050863_71050865del NCBI36
NG_015988.1:g.5118_5120del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.-14_-12del MANE Select ENSP00000296777.4:n.-14_-12del
ENST00000296777.4:c.-14_-12del ENSP00000296777.4:n.-14_-12del
NM_004291.3:c.-14_-12del NP_004282.1:n.-14_-12del
NM_004291.4:c.-14_-12del MANE Select NP_004282.1:n.-14_-12del