Canonical Allele Identifier: CA1787831652
Gene: CA8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60192633_60192635delinsATG , CM000670.2:g.60192633_60192635delinsATG GRCh38
NC_000008.10:g.61105192_61105194delinsATG , CM000670.1:g.61105192_61105194delinsATG GRCh37
NC_000008.9:g.61267746_61267748delinsATG NCBI36
NG_023193.1:g.93761_93763delinsCAT
NG_023193.2:g.93761_93763delinsCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000317995.5:c.*36-2650_*36-2648delinsCAT MANE Select ENSP00000314407.4:n.*36-2650_*36-2648delinsCAT
ENST00000317995.4:c.*36-2650_*36-2648delinsCAT ENSP00000314407.4:n.*36-2650_*36-2648delinsCAT
NM_004056.4:c.*36-2650_*36-2648delinsCAT NP_004047.3:n.*36-2650_*36-2648delinsCAT
XM_011517586.1:c.*36-2650_*36-2648delinsCAT XP_011515888.1:n.*36-2650_*36-2648delinsCAT
NM_001321839.1:c.*36-2650_*36-2648delinsCAT NP_001308768.1:n.*36-2650_*36-2648delinsCAT
NM_004056.5:c.*36-2650_*36-2648delinsCAT NP_004047.3:n.*36-2650_*36-2648delinsCAT
NR_135821.1:n.1235-2650_1235-2648delinsCAT
XM_017013818.1:c.*36-2650_*36-2648delinsCAT XP_016869307.1:n.*36-2650_*36-2648delinsCAT
NM_004056.6:c.*36-2650_*36-2648delinsCAT MANE Select NP_004047.3:n.*36-2650_*36-2648delinsCAT
NM_001321839.2:c.*36-2650_*36-2648delinsCAT NP_001308768.1:n.*36-2650_*36-2648delinsCAT
NR_135821.2:n.1212-2650_1212-2648delinsCAT