Canonical Allele Identifier: CA1787831418
Gene: CA8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60192454_60192457delinsAACT , CM000670.2:g.60192454_60192457delinsAACT GRCh38
NC_000008.10:g.61105013_61105016delinsAACT , CM000670.1:g.61105013_61105016delinsAACT GRCh37
NC_000008.9:g.61267567_61267570delinsAACT NCBI36
NG_023193.1:g.93939_93942delinsAGTT
NG_023193.2:g.93939_93942delinsAGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000317995.5:c.*36-2472_*36-2469delinsAGTT MANE Select ENSP00000314407.4:n.*36-2472_*36-2469delinsAGTT
ENST00000317995.4:c.*36-2472_*36-2469delinsAGTT ENSP00000314407.4:n.*36-2472_*36-2469delinsAGTT
NM_004056.4:c.*36-2472_*36-2469delinsAGTT NP_004047.3:n.*36-2472_*36-2469delinsAGTT
XM_011517586.1:c.*36-2472_*36-2469delinsAGTT XP_011515888.1:n.*36-2472_*36-2469delinsAGTT
NM_001321839.1:c.*36-2472_*36-2469delinsAGTT NP_001308768.1:n.*36-2472_*36-2469delinsAGTT
NM_004056.5:c.*36-2472_*36-2469delinsAGTT NP_004047.3:n.*36-2472_*36-2469delinsAGTT
NR_135821.1:n.1235-2472_1235-2469delinsAGTT
XM_017013818.1:c.*36-2472_*36-2469delinsAGTT XP_016869307.1:n.*36-2472_*36-2469delinsAGTT
NM_004056.6:c.*36-2472_*36-2469delinsAGTT MANE Select NP_004047.3:n.*36-2472_*36-2469delinsAGTT
NM_001321839.2:c.*36-2472_*36-2469delinsAGTT NP_001308768.1:n.*36-2472_*36-2469delinsAGTT
NR_135821.2:n.1212-2472_1212-2469delinsAGTT