Canonical Allele Identifier: CA582253963

Gene: CA8

Linked Data

• dbSNP Id: rs1469142882
• gnomAD v2: 8-61105347-TCTC-T
• gnomAD v3: 8-60192788-TCTC-T
• gnomAD v4: 8-60192788-TCTC-T
• MyVariant Identifiers: chr8:g.61105348_61105350del (hg19) ; chr8:g.60192789_60192791del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60192791_60192793del , CM000670.2:g.60192791_60192793del	GRCh38
NC_000008.10:g.61105350_61105352del , CM000670.1:g.61105350_61105352del	GRCh37
NC_000008.9:g.61267904_61267906del	NCBI36
NG_023193.1:g.93605_93607del
NG_023193.2:g.93605_93607del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317995.5:c.*36-2806_*36-2804del MANE Select	ENSP00000314407.4:n.*36-2806_*36-2804del
ENST00000317995.4:c.*36-2806_*36-2804del	ENSP00000314407.4:n.*36-2806_*36-2804del
NM_004056.4:c.*36-2806_*36-2804del	NP_004047.3:n.*36-2806_*36-2804del
XM_011517586.1:c.*36-2806_*36-2804del	XP_011515888.1:n.*36-2806_*36-2804del
NM_001321839.1:c.*36-2806_*36-2804del	NP_001308768.1:n.*36-2806_*36-2804del
NM_004056.5:c.*36-2806_*36-2804del	NP_004047.3:n.*36-2806_*36-2804del
NR_135821.1:n.1235-2806_1235-2804del
XM_017013818.1:c.*36-2806_*36-2804del	XP_016869307.1:n.*36-2806_*36-2804del
NM_004056.6:c.*36-2806_*36-2804del MANE Select	NP_004047.3:n.*36-2806_*36-2804del
NM_001321839.2:c.*36-2806_*36-2804del	NP_001308768.1:n.*36-2806_*36-2804del
NR_135821.2:n.1212-2806_1212-2804del