Canonical Allele Identifier: CA1114403830

Gene: CA8

Linked Data

• dbSNP Id: rs1806162549
• gnomAD v3: 8-60192648-CATAA-C
• gnomAD v4: 8-60192648-CATAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60192653_60192656del , CM000670.2:g.60192653_60192656del	GRCh38
NC_000008.10:g.61105212_61105215del , CM000670.1:g.61105212_61105215del	GRCh37
NC_000008.9:g.61267766_61267769del	NCBI36
NG_023193.1:g.93744_93747del
NG_023193.2:g.93744_93747del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317995.5:c.*36-2667_*36-2664del MANE Select	ENSP00000314407.4:n.*36-2667_*36-2664del
ENST00000317995.4:c.*36-2667_*36-2664del	ENSP00000314407.4:n.*36-2667_*36-2664del
NM_004056.4:c.*36-2667_*36-2664del	NP_004047.3:n.*36-2667_*36-2664del
XM_011517586.1:c.*36-2667_*36-2664del	XP_011515888.1:n.*36-2667_*36-2664del
NM_001321839.1:c.*36-2667_*36-2664del	NP_001308768.1:n.*36-2667_*36-2664del
NM_004056.5:c.*36-2667_*36-2664del	NP_004047.3:n.*36-2667_*36-2664del
NR_135821.1:n.1235-2667_1235-2664del
XM_017013818.1:c.*36-2667_*36-2664del	XP_016869307.1:n.*36-2667_*36-2664del
NM_004056.6:c.*36-2667_*36-2664del MANE Select	NP_004047.3:n.*36-2667_*36-2664del
NM_001321839.2:c.*36-2667_*36-2664del	NP_001308768.1:n.*36-2667_*36-2664del
NR_135821.2:n.1212-2667_1212-2664del