Canonical Allele Identifier: CA2574200222
Gene: CA6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8957366_8957367del , CM000663.2:g.8957366_8957367del GRCh38
NC_000001.10:g.9017425_9017426del , CM000663.1:g.9017425_9017426del GRCh37
NC_000001.9:g.8940012_8940013del NCBI36
NG_033975.1:g.16533_16534del

Transcript Alleles

HGVS Amino-acid Change
ENST00000377443.7:c.408+81_408+82del MANE Select ENSP00000366662.2:n.408+81_408+82del
ENST00000377436.6:c.408+81_408+82del ENSP00000366654.3:n.408+81_408+82del
ENST00000377442.3:c.228+81_228+82del ENSP00000366661.2:n.228+81_228+82del
ENST00000377443.6:c.408+81_408+82del ENSP00000366662.2:n.408+81_408+82del
ENST00000476083.1:n.99-1544_99-1543del
ENST00000549778.5:c.312+81_312+82del ENSP00000447108.1:n.312+81_312+82del
NM_001215.3:c.408+81_408+82del NP_001206.2:n.408+81_408+82del
NM_001270500.1:c.408+81_408+82del NP_001257429.1:n.408+81_408+82del
NM_001270501.1:c.228+81_228+82del NP_001257430.1:n.228+81_228+82del
NM_001270502.1:c.25-1544_25-1543del NP_001257431.1:n.25-1544_25-1543del
XM_011542083.1:c.420+81_420+82del XP_011540385.1:n.420+81_420+82del
XM_011542084.1:c.420+81_420+82del XP_011540386.1:n.420+81_420+82del
XM_011542083.3:c.420+81_420+82del XP_011540385.1:n.420+81_420+82del
XM_011542084.3:c.420+81_420+82del XP_011540386.1:n.420+81_420+82del
NM_001215.4:c.408+81_408+82del MANE Select NP_001206.2:n.408+81_408+82del
NM_001270500.2:c.408+81_408+82del NP_001257429.1:n.408+81_408+82del
NM_001270501.2:c.228+81_228+82del NP_001257430.1:n.228+81_228+82del
NM_001270502.2:c.25-1544_25-1543del NP_001257431.1:n.25-1544_25-1543del