Canonical Allele Identifier: CA1787831589
Gene: CA8 HGNC NCBI

Linked Data

dbSNP Id: rs1806160444

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60192563_60192566del , CM000670.2:g.60192563_60192566del GRCh38
NC_000008.10:g.61105122_61105125del , CM000670.1:g.61105122_61105125del GRCh37
NC_000008.9:g.61267676_61267679del NCBI36
NG_023193.1:g.93832_93835del
NG_023193.2:g.93832_93835del

Transcript Alleles

HGVS Amino-acid change
ENST00000317995.5:c.*36-2579_*36-2576del MANE Select ENSP00000314407.4:n.*36-2579_*36-2576del
ENST00000317995.4:c.*36-2579_*36-2576del ENSP00000314407.4:n.*36-2579_*36-2576del
NM_004056.4:c.*36-2579_*36-2576del NP_004047.3:n.*36-2579_*36-2576del
XM_011517586.1:c.*36-2579_*36-2576del XP_011515888.1:n.*36-2579_*36-2576del
NM_001321839.1:c.*36-2579_*36-2576del NP_001308768.1:n.*36-2579_*36-2576del
NM_004056.5:c.*36-2579_*36-2576del NP_004047.3:n.*36-2579_*36-2576del
NR_135821.1:n.1235-2579_1235-2576del
XM_017013818.1:c.*36-2579_*36-2576del XP_016869307.1:n.*36-2579_*36-2576del
NM_004056.6:c.*36-2579_*36-2576del MANE Select NP_004047.3:n.*36-2579_*36-2576del
NM_001321839.2:c.*36-2579_*36-2576del NP_001308768.1:n.*36-2579_*36-2576del
NR_135821.2:n.1212-2579_1212-2576del