Canonical Allele Identifier: CA2687785937

Gene: CA1

Linked Data

• gnomAD v4: 8-85328417-TTCTTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.85328418_85328422del , CM000670.2:g.85328418_85328422del	GRCh38
NC_000008.10:g.86240647_86240651del , CM000670.1:g.86240647_86240651del	GRCh37
NC_000008.9:g.86427899_86427903del	NCBI36
NG_016221.1:g.54692_54696del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523022.6:c.*138_*142del MANE Select	ENSP00000429798.1:n.*138_*142del
ENST00000431316.3:c.*138_*142del	ENSP00000392338.1:n.*138_*142del
ENST00000523022.5:c.*138_*142del	ENSP00000429798.1:n.*138_*142del
ENST00000523953.5:c.*138_*142del	ENSP00000430656.1:n.*138_*142del
ENST00000542576.5:c.*138_*142del	ENSP00000443517.1:n.*138_*142del
ENST00000626824.1:c.*138_*142del	ENSP00000486171.1:n.*138_*142del
NM_001128829.3:c.*138_*142del	NP_001122301.1:n.*138_*142del
NM_001128830.3:c.*138_*142del	NP_001122302.1:n.*138_*142del
NM_001128831.3:c.*138_*142del	NP_001122303.1:n.*138_*142del
NM_001164830.1:c.*138_*142del	NP_001158302.1:n.*138_*142del
NM_001291967.1:c.*138_*142del	NP_001278896.1:n.*138_*142del
NM_001291968.1:c.*138_*142del	NP_001278897.1:n.*138_*142del
NM_001738.4:c.*138_*142del	NP_001729.1:n.*138_*142del
XM_011517584.1:c.*138_*142del	XP_011515886.1:n.*138_*142del
NM_001128829.4:c.*138_*142del	NP_001122301.1:n.*138_*142del
NM_001128830.4:c.*138_*142del	NP_001122302.1:n.*138_*142del
NM_001128831.4:c.*138_*142del MANE Select	NP_001122303.1:n.*138_*142del
NM_001164830.2:c.*138_*142del	NP_001158302.1:n.*138_*142del
NM_001291967.2:c.*138_*142del	NP_001278896.1:n.*138_*142del
NM_001291968.2:c.*138_*142del	NP_001278897.1:n.*138_*142del
NM_001738.5:c.*138_*142del	NP_001729.1:n.*138_*142del