Canonical Allele Identifier: CA1787831911
Gene: CA8 HGNC NCBI

Linked Data

dbSNP Id: rs1806167055

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60192792_60192794del , CM000670.2:g.60192792_60192794del GRCh38
NC_000008.10:g.61105351_61105353del , CM000670.1:g.61105351_61105353del GRCh37
NC_000008.9:g.61267905_61267907del NCBI36
NG_023193.1:g.93602_93604del
NG_023193.2:g.93602_93604del

Transcript Alleles

HGVS Amino-acid Change
ENST00000317995.5:c.*36-2809_*36-2807del MANE Select ENSP00000314407.4:n.*36-2809_*36-2807del
ENST00000317995.4:c.*36-2809_*36-2807del ENSP00000314407.4:n.*36-2809_*36-2807del
NM_004056.4:c.*36-2809_*36-2807del NP_004047.3:n.*36-2809_*36-2807del
XM_011517586.1:c.*36-2809_*36-2807del XP_011515888.1:n.*36-2809_*36-2807del
NM_001321839.1:c.*36-2809_*36-2807del NP_001308768.1:n.*36-2809_*36-2807del
NM_004056.5:c.*36-2809_*36-2807del NP_004047.3:n.*36-2809_*36-2807del
NR_135821.1:n.1235-2809_1235-2807del
XM_017013818.1:c.*36-2809_*36-2807del XP_016869307.1:n.*36-2809_*36-2807del
NM_004056.6:c.*36-2809_*36-2807del MANE Select NP_004047.3:n.*36-2809_*36-2807del
NM_001321839.2:c.*36-2809_*36-2807del NP_001308768.1:n.*36-2809_*36-2807del
NR_135821.2:n.1212-2809_1212-2807del