Canonical Allele Identifier: CA180229154

Gene: CA1

Linked Data

• dbSNP Id: rs1051037743
• gnomAD v3: 8-85328231-AAG-A
• gnomAD v4: 8-85328231-AAG-A
• MyVariant Identifiers: chr8:g.86240461_86240462del (hg19) ; chr8:g.85328232_85328233del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.85328235_85328236del , CM000670.2:g.85328235_85328236del	GRCh38
NC_000008.10:g.86240464_86240465del , CM000670.1:g.86240464_86240465del	GRCh37
NC_000008.9:g.86427716_86427717del	NCBI36
NG_016221.1:g.54881_54882del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523022.6:c.*327_*328del MANE Select	ENSP00000429798.1:n.*327_*328del
ENST00000431316.3:c.*327_*328del	ENSP00000392338.1:n.*327_*328del
ENST00000523022.5:c.*327_*328del	ENSP00000429798.1:n.*327_*328del
ENST00000523953.5:c.*327_*328del	ENSP00000430656.1:n.*327_*328del
ENST00000542576.5:c.*327_*328del	ENSP00000443517.1:n.*327_*328del
ENST00000626824.1:c.*327_*328del	ENSP00000486171.1:n.*327_*328del
NM_001128829.3:c.*327_*328del	NP_001122301.1:n.*327_*328del
NM_001128830.3:c.*327_*328del	NP_001122302.1:n.*327_*328del
NM_001128831.3:c.*327_*328del	NP_001122303.1:n.*327_*328del
NM_001164830.1:c.*327_*328del	NP_001158302.1:n.*327_*328del
NM_001291967.1:c.*327_*328del	NP_001278896.1:n.*327_*328del
NM_001291968.1:c.*327_*328del	NP_001278897.1:n.*327_*328del
NM_001738.4:c.*327_*328del	NP_001729.1:n.*327_*328del
XM_011517584.1:c.*327_*328del	XP_011515886.1:n.*327_*328del
NM_001128829.4:c.*327_*328del	NP_001122301.1:n.*327_*328del
NM_001128830.4:c.*327_*328del	NP_001122302.1:n.*327_*328del
NM_001128831.4:c.*327_*328del MANE Select	NP_001122303.1:n.*327_*328del
NM_001164830.2:c.*327_*328del	NP_001158302.1:n.*327_*328del
NM_001291967.2:c.*327_*328del	NP_001278896.1:n.*327_*328del
NM_001291968.2:c.*327_*328del	NP_001278897.1:n.*327_*328del
NM_001738.5:c.*327_*328del	NP_001729.1:n.*327_*328del