Canonical Allele Identifier: CA2574200175
Gene: CA6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8957235del , CM000663.2:g.8957235del GRCh38
NC_000001.10:g.9017294del , CM000663.1:g.9017294del GRCh37
NC_000001.9:g.8939881del NCBI36
NG_033975.1:g.16402del

Transcript Alleles

HGVS Amino-acid Change
ENST00000377443.7:c.358del MANE Select ENSP00000366662.2:p.Glu120ArgfsTer15
ENST00000377436.6:c.358del ENSP00000366654.3:p.Glu120ArgfsTer15
ENST00000377442.3:c.178del ENSP00000366661.2:p.Glu60ArgfsTer15
ENST00000377443.6:c.358del ENSP00000366662.2:p.Glu120ArgfsTer15
ENST00000476083.1:n.99-1675del
ENST00000549778.5:c.262del ENSP00000447108.1:p.Glu88ArgfsTer15
NM_001215.3:c.358del NP_001206.2:p.Glu120ArgfsTer15
NM_001270500.1:c.358del NP_001257429.1:p.Glu120ArgfsTer15
NM_001270501.1:c.178del NP_001257430.1:p.Glu60ArgfsTer15
NM_001270502.1:c.25-1675del NP_001257431.1:n.25-1675del
XM_011542083.1:c.370del XP_011540385.1:p.Glu124ArgfsTer15
XM_011542084.1:c.370del XP_011540386.1:p.Glu124ArgfsTer15
XM_011542083.3:c.370del XP_011540385.1:p.Glu124ArgfsTer15
XM_011542084.3:c.370del XP_011540386.1:p.Glu124ArgfsTer15
NM_001215.4:c.358del MANE Select NP_001206.2:p.Glu120ArgfsTer15
NM_001270500.2:c.358del NP_001257429.1:p.Glu120ArgfsTer15
NM_001270501.2:c.178del NP_001257430.1:p.Glu60ArgfsTer15
NM_001270502.2:c.25-1675del NP_001257431.1:n.25-1675del