Canonical Allele Identifier: CA178119076

Gene: CA8

Linked Data

• dbSNP Id: rs1054161942
• gnomAD v3: 8-60192475-CATAA-C
• gnomAD v4: 8-60192475-CATAA-C
• MyVariant Identifiers: chr8:g.61105035_61105038del (hg19) ; chr8:g.60192476_60192479del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60192478_60192481del , CM000670.2:g.60192478_60192481del	GRCh38
NC_000008.10:g.61105037_61105040del , CM000670.1:g.61105037_61105040del	GRCh37
NC_000008.9:g.61267591_61267594del	NCBI36
NG_023193.1:g.93917_93920del
NG_023193.2:g.93917_93920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317995.5:c.*36-2494_*36-2491del MANE Select	ENSP00000314407.4:n.*36-2494_*36-2491del
ENST00000317995.4:c.*36-2494_*36-2491del	ENSP00000314407.4:n.*36-2494_*36-2491del
NM_004056.4:c.*36-2494_*36-2491del	NP_004047.3:n.*36-2494_*36-2491del
XM_011517586.1:c.*36-2494_*36-2491del	XP_011515888.1:n.*36-2494_*36-2491del
NM_001321839.1:c.*36-2494_*36-2491del	NP_001308768.1:n.*36-2494_*36-2491del
NM_004056.5:c.*36-2494_*36-2491del	NP_004047.3:n.*36-2494_*36-2491del
NR_135821.1:n.1235-2494_1235-2491del
XM_017013818.1:c.*36-2494_*36-2491del	XP_016869307.1:n.*36-2494_*36-2491del
NM_004056.6:c.*36-2494_*36-2491del MANE Select	NP_004047.3:n.*36-2494_*36-2491del
NM_001321839.2:c.*36-2494_*36-2491del	NP_001308768.1:n.*36-2494_*36-2491del
NR_135821.2:n.1212-2494_1212-2491del