Canonical Allele Identifier: CA2268452197
Gene: CA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.60150224_60150227delinsGCGC , CM000679.2:g.60150224_60150227delinsGCGC GRCh38
NC_000017.10:g.58227585_58227588delinsGCGC , CM000679.1:g.58227585_58227588delinsGCGC GRCh37
NC_000017.9:g.55582367_55582370delinsGCGC NCBI36
NG_012050.1:g.5284_5287delinsGCGC
NG_012050.2:g.5284_5287delinsGCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000300900.9:c.58+132_58+135delinsGCGC MANE Select ENSP00000300900.3:n.58+132_58+135delinsGCGC
ENST00000300900.8:c.58+132_58+135delinsGCGC ENSP00000300900.3:n.58+132_58+135delinsGCGC
ENST00000585705.5:n.151+132_151+135delinsGCGC
ENST00000586876.1:c.58+132_58+135delinsGCGC ENSP00000467465.1:n.58+132_58+135delinsGCGC
ENST00000591725.1:c.-301+132_-301+135delinsGCGC ENSP00000466964.1:n.-301+132_-301+135delinsGCGC
NM_000717.3:c.58+132_58+135delinsGCGC NP_000708.1:n.58+132_58+135delinsGCGC
XM_005257639.1:c.58+132_58+135delinsGCGC XP_005257696.1:n.58+132_58+135delinsGCGC
NM_000717.4:c.58+132_58+135delinsGCGC NP_000708.1:n.58+132_58+135delinsGCGC
NR_137422.1:n.157+132_157+135delinsGCGC
XM_005257639.3:c.58+132_58+135delinsGCGC XP_005257696.1:n.58+132_58+135delinsGCGC
XR_001752604.2:n.151+132_151+135delinsGCGC
XR_001752605.2:n.151+132_151+135delinsGCGC
XR_001752606.2:n.151+132_151+135delinsGCGC
XR_001752607.2:n.151+132_151+135delinsGCGC
XR_001752608.2:n.151+132_151+135delinsGCGC
XR_001752609.2:n.151+132_151+135delinsGCGC
XR_001752610.2:n.151+132_151+135delinsGCGC
NM_000717.5:c.58+132_58+135delinsGCGC MANE Select NP_000708.1:n.58+132_58+135delinsGCGC
NR_137422.2:n.120+132_120+135delinsGCGC