Canonical Allele Identifier: CA1787831717
Gene: CA8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60192659_60192662delinsGCAA , CM000670.2:g.60192659_60192662delinsGCAA GRCh38
NC_000008.10:g.61105218_61105221delinsGCAA , CM000670.1:g.61105218_61105221delinsGCAA GRCh37
NC_000008.9:g.61267772_61267775delinsGCAA NCBI36
NG_023193.1:g.93734_93737delinsTTGC
NG_023193.2:g.93734_93737delinsTTGC

Transcript Alleles

HGVS Amino-acid change
ENST00000317995.5:c.*36-2677_*36-2674delinsTTGC MANE Select ENSP00000314407.4:n.*36-2677_*36-2674deli...
ENST00000317995.4:c.*36-2677_*36-2674delinsTTGC ENSP00000314407.4:n.*36-2677_*36-2674deli...
NM_004056.4:c.*36-2677_*36-2674delinsTTGC NP_004047.3:n.*36-2677_*36-2674delinsTTGC...
XM_011517586.1:c.*36-2677_*36-2674delinsTTGC XP_011515888.1:n.*36-2677_*36-2674delinsT...
NM_001321839.1:c.*36-2677_*36-2674delinsTTGC NP_001308768.1:n.*36-2677_*36-2674delinsT...
NM_004056.5:c.*36-2677_*36-2674delinsTTGC NP_004047.3:n.*36-2677_*36-2674delinsTTGC...
NR_135821.1:n.1235-2677_1235-2674delinsTTGC
XM_017013818.1:c.*36-2677_*36-2674delinsTTGC XP_016869307.1:n.*36-2677_*36-2674delinsT...
NM_004056.6:c.*36-2677_*36-2674delinsTTGC MANE Select NP_004047.3:n.*36-2677_*36-2674delinsTTGC...
NM_001321839.2:c.*36-2677_*36-2674delinsTTGC NP_001308768.1:n.*36-2677_*36-2674delinsT...
NR_135821.2:n.1212-2677_1212-2674delinsTTGC