Canonical Allele Identifier: CA2601410470

Gene: CA1

Linked Data

• dbSNP Id: rs2130102290
• gnomAD v3: 8-85328244-AT-A
• gnomAD v4: 8-85328244-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.85328248del , CM000670.2:g.85328248del	GRCh38
NC_000008.10:g.86240477del , CM000670.1:g.86240477del	GRCh37
NC_000008.9:g.86427729del	NCBI36
NG_016221.1:g.54869del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523022.6:c.*315del MANE Select	ENSP00000429798.1:n.*315del
ENST00000431316.3:c.*315del	ENSP00000392338.1:n.*315del
ENST00000523022.5:c.*315del	ENSP00000429798.1:n.*315del
ENST00000523953.5:c.*315del	ENSP00000430656.1:n.*315del
ENST00000542576.5:c.*315del	ENSP00000443517.1:n.*315del
ENST00000626824.1:c.*315del	ENSP00000486171.1:n.*315del
NM_001128829.3:c.*315del	NP_001122301.1:n.*315del
NM_001128830.3:c.*315del	NP_001122302.1:n.*315del
NM_001128831.3:c.*315del	NP_001122303.1:n.*315del
NM_001164830.1:c.*315del	NP_001158302.1:n.*315del
NM_001291967.1:c.*315del	NP_001278896.1:n.*315del
NM_001291968.1:c.*315del	NP_001278897.1:n.*315del
NM_001738.4:c.*315del	NP_001729.1:n.*315del
XM_011517584.1:c.*315del	XP_011515886.1:n.*315del
NM_001128829.4:c.*315del	NP_001122301.1:n.*315del
NM_001128830.4:c.*315del	NP_001122302.1:n.*315del
NM_001128831.4:c.*315del MANE Select	NP_001122303.1:n.*315del
NM_001164830.2:c.*315del	NP_001158302.1:n.*315del
NM_001291967.2:c.*315del	NP_001278896.1:n.*315del
NM_001291968.2:c.*315del	NP_001278897.1:n.*315del
NM_001738.5:c.*315del	NP_001729.1:n.*315del