Canonical Allele Identifier: CA2810026582
Gene: CA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.60150104_60150106del , CM000679.2:g.60150104_60150106del GRCh38
NC_000017.10:g.58227465_58227467del , CM000679.1:g.58227465_58227467del GRCh37
NC_000017.9:g.55582247_55582249del NCBI36
NG_012050.1:g.5164_5166del
NG_012050.2:g.5164_5166del

Transcript Alleles

HGVS Amino-acid Change
ENST00000300900.9:c.58+12_58+14del MANE Select ENSP00000300900.3:n.58+12_58+14del
ENST00000300900.8:c.58+12_58+14del ENSP00000300900.3:n.58+12_58+14del
ENST00000585705.5:n.151+12_151+14del
ENST00000586876.1:c.58+12_58+14del ENSP00000467465.1:n.58+12_58+14del
ENST00000591725.1:c.-301+12_-301+14del ENSP00000466964.1:n.-301+12_-301+14del
NM_000717.3:c.58+12_58+14del NP_000708.1:n.58+12_58+14del
XM_005257639.1:c.58+12_58+14del XP_005257696.1:n.58+12_58+14del
NM_000717.4:c.58+12_58+14del NP_000708.1:n.58+12_58+14del
NR_137422.1:n.157+12_157+14del
XM_005257639.3:c.58+12_58+14del XP_005257696.1:n.58+12_58+14del
XR_001752604.2:n.151+12_151+14del
XR_001752605.2:n.151+12_151+14del
XR_001752606.2:n.151+12_151+14del
XR_001752607.2:n.151+12_151+14del
XR_001752608.2:n.151+12_151+14del
XR_001752609.2:n.151+12_151+14del
XR_001752610.2:n.151+12_151+14del
NM_000717.5:c.58+12_58+14del MANE Select NP_000708.1:n.58+12_58+14del
NR_137422.2:n.120+12_120+14del