Canonical Allele Identifier: CA853842327

Gene: CA8

Linked Data

• dbSNP Id: rs1160665255
• gnomAD v3: 8-60192454-AACT-A
• gnomAD v4: 8-60192454-AACT-A
• MyVariant Identifiers: chr8:g.61105014_61105016del (hg19) ; chr8:g.60192455_60192457del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60192457_60192459del , CM000670.2:g.60192457_60192459del	GRCh38
NC_000008.10:g.61105016_61105018del , CM000670.1:g.61105016_61105018del	GRCh37
NC_000008.9:g.61267570_61267572del	NCBI36
NG_023193.1:g.93939_93941del
NG_023193.2:g.93939_93941del

Transcript Alleles

HGVS	Amino-acid change
ENST00000317995.5:c.*36-2472_*36-2470del MANE Select	ENSP00000314407.4:n.*36-2472_*36-2470del
ENST00000317995.4:c.*36-2472_*36-2470del	ENSP00000314407.4:n.*36-2472_*36-2470del
NM_004056.4:c.*36-2472_*36-2470del	NP_004047.3:n.*36-2472_*36-2470del
XM_011517586.1:c.*36-2472_*36-2470del	XP_011515888.1:n.*36-2472_*36-2470del
NM_001321839.1:c.*36-2472_*36-2470del	NP_001308768.1:n.*36-2472_*36-2470del
NM_004056.5:c.*36-2472_*36-2470del	NP_004047.3:n.*36-2472_*36-2470del
NR_135821.1:n.1235-2472_1235-2470del
XM_017013818.1:c.*36-2472_*36-2470del	XP_016869307.1:n.*36-2472_*36-2470del
NM_004056.6:c.*36-2472_*36-2470del MANE Select	NP_004047.3:n.*36-2472_*36-2470del
NM_001321839.2:c.*36-2472_*36-2470del	NP_001308768.1:n.*36-2472_*36-2470del
NR_135821.2:n.1212-2472_1212-2470del