Canonical Allele Identifier: CA1787831458
Gene: CA8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60192475_60192479delinsCATAA , CM000670.2:g.60192475_60192479delinsCATAA GRCh38
NC_000008.10:g.61105034_61105038delinsCATAA , CM000670.1:g.61105034_61105038delinsCATAA GRCh37
NC_000008.9:g.61267588_61267592delinsCATAA NCBI36
NG_023193.1:g.93917_93921delinsTTATG
NG_023193.2:g.93917_93921delinsTTATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000317995.5:c.*36-2494_*36-2490delinsTTATG MANE Select ENSP00000314407.4:n.*36-2494_*36-2490delinsTTATG
ENST00000317995.4:c.*36-2494_*36-2490delinsTTATG ENSP00000314407.4:n.*36-2494_*36-2490delinsTTATG
NM_004056.4:c.*36-2494_*36-2490delinsTTATG NP_004047.3:n.*36-2494_*36-2490delinsTTATG
XM_011517586.1:c.*36-2494_*36-2490delinsTTATG XP_011515888.1:n.*36-2494_*36-2490delinsTTATG
NM_001321839.1:c.*36-2494_*36-2490delinsTTATG NP_001308768.1:n.*36-2494_*36-2490delinsTTATG
NM_004056.5:c.*36-2494_*36-2490delinsTTATG NP_004047.3:n.*36-2494_*36-2490delinsTTATG
NR_135821.1:n.1235-2494_1235-2490delinsTTATG
XM_017013818.1:c.*36-2494_*36-2490delinsTTATG XP_016869307.1:n.*36-2494_*36-2490delinsTTATG
NM_004056.6:c.*36-2494_*36-2490delinsTTATG MANE Select NP_004047.3:n.*36-2494_*36-2490delinsTTATG
NM_001321839.2:c.*36-2494_*36-2490delinsTTATG NP_001308768.1:n.*36-2494_*36-2490delinsTTATG
NR_135821.2:n.1212-2494_1212-2490delinsTTATG