Canonical Allele Identifier: CA2810026619
Gene: CA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.60150169_60150170del , CM000679.2:g.60150169_60150170del GRCh38
NC_000017.10:g.58227530_58227531del , CM000679.1:g.58227530_58227531del GRCh37
NC_000017.9:g.55582312_55582313del NCBI36
NG_012050.1:g.5229_5230del
NG_012050.2:g.5229_5230del

Transcript Alleles

HGVS Amino-acid Change
ENST00000300900.9:c.58+77_58+78del MANE Select ENSP00000300900.3:n.58+77_58+78del
ENST00000300900.8:c.58+77_58+78del ENSP00000300900.3:n.58+77_58+78del
ENST00000585705.5:n.151+77_151+78del
ENST00000586876.1:c.58+77_58+78del ENSP00000467465.1:n.58+77_58+78del
ENST00000591725.1:c.-301+77_-301+78del ENSP00000466964.1:n.-301+77_-301+78del
NM_000717.3:c.58+77_58+78del NP_000708.1:n.58+77_58+78del
XM_005257639.1:c.58+77_58+78del XP_005257696.1:n.58+77_58+78del
NM_000717.4:c.58+77_58+78del NP_000708.1:n.58+77_58+78del
NR_137422.1:n.157+77_157+78del
XM_005257639.3:c.58+77_58+78del XP_005257696.1:n.58+77_58+78del
XR_001752604.2:n.151+77_151+78del
XR_001752605.2:n.151+77_151+78del
XR_001752606.2:n.151+77_151+78del
XR_001752607.2:n.151+77_151+78del
XR_001752608.2:n.151+77_151+78del
XR_001752609.2:n.151+77_151+78del
XR_001752610.2:n.151+77_151+78del
NM_000717.5:c.58+77_58+78del MANE Select NP_000708.1:n.58+77_58+78del
NR_137422.2:n.120+77_120+78del