Canonical Allele Identifier: CA2810026618
Gene: CA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.60150166_60150169del , CM000679.2:g.60150166_60150169del GRCh38
NC_000017.10:g.58227527_58227530del , CM000679.1:g.58227527_58227530del GRCh37
NC_000017.9:g.55582309_55582312del NCBI36
NG_012050.1:g.5226_5229del
NG_012050.2:g.5226_5229del

Transcript Alleles

HGVS Amino-acid Change
ENST00000300900.9:c.58+74_58+77del MANE Select ENSP00000300900.3:n.58+74_58+77del
ENST00000300900.8:c.58+74_58+77del ENSP00000300900.3:n.58+74_58+77del
ENST00000585705.5:n.151+74_151+77del
ENST00000586876.1:c.58+74_58+77del ENSP00000467465.1:n.58+74_58+77del
ENST00000591725.1:c.-301+74_-301+77del ENSP00000466964.1:n.-301+74_-301+77del
NM_000717.3:c.58+74_58+77del NP_000708.1:n.58+74_58+77del
XM_005257639.1:c.58+74_58+77del XP_005257696.1:n.58+74_58+77del
NM_000717.4:c.58+74_58+77del NP_000708.1:n.58+74_58+77del
NR_137422.1:n.157+74_157+77del
XM_005257639.3:c.58+74_58+77del XP_005257696.1:n.58+74_58+77del
XR_001752604.2:n.151+74_151+77del
XR_001752605.2:n.151+74_151+77del
XR_001752606.2:n.151+74_151+77del
XR_001752607.2:n.151+74_151+77del
XR_001752608.2:n.151+74_151+77del
XR_001752609.2:n.151+74_151+77del
XR_001752610.2:n.151+74_151+77del
NM_000717.5:c.58+74_58+77del MANE Select NP_000708.1:n.58+74_58+77del
NR_137422.2:n.120+74_120+77del