Canonical Allele Identifier: CA2268452284

Gene: CA4

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60150358_60150365delinsCGAGTTGG , CM000679.2:g.60150358_60150365delinsCGAGTTGG	GRCh38
NC_000017.10:g.58227719_58227726delinsCGAGTTGG , CM000679.1:g.58227719_58227726delinsCGAGTTGG	GRCh37
NC_000017.9:g.55582501_55582508delinsCGAGTTGG	NCBI36
NG_012050.1:g.5418_5425delinsCGAGTTGG
NG_012050.2:g.5418_5425delinsCGAGTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300900.9:c.58+266_58+273delinsCGAGTTGG MANE Select	ENSP00000300900.3:n.58+266_58+273delinsCGAGTTGG
ENST00000300900.8:c.58+266_58+273delinsCGAGTTGG	ENSP00000300900.3:n.58+266_58+273delinsCGAGTTGG
ENST00000585705.5:n.151+266_151+273delinsCGAGTTGG
ENST00000586876.1:c.58+266_58+273delinsCGAGTTGG	ENSP00000467465.1:n.58+266_58+273delinsCGAGTTGG
ENST00000591725.1:c.-301+266_-301+273delinsCGAGTTGG	ENSP00000466964.1:n.-301+266_-301+273delinsCGAGTTGG
NM_000717.3:c.58+266_58+273delinsCGAGTTGG	NP_000708.1:n.58+266_58+273delinsCGAGTTGG
XM_005257639.1:c.58+266_58+273delinsCGAGTTGG	XP_005257696.1:n.58+266_58+273delinsCGAGTTGG
NM_000717.4:c.58+266_58+273delinsCGAGTTGG	NP_000708.1:n.58+266_58+273delinsCGAGTTGG
NR_137422.1:n.157+266_157+273delinsCGAGTTGG
XM_005257639.3:c.58+266_58+273delinsCGAGTTGG	XP_005257696.1:n.58+266_58+273delinsCGAGTTGG
XR_001752604.2:n.151+266_151+273delinsCGAGTTGG
XR_001752605.2:n.151+266_151+273delinsCGAGTTGG
XR_001752606.2:n.151+266_151+273delinsCGAGTTGG
XR_001752607.2:n.151+266_151+273delinsCGAGTTGG
XR_001752608.2:n.151+266_151+273delinsCGAGTTGG
XR_001752609.2:n.151+266_151+273delinsCGAGTTGG
XR_001752610.2:n.151+266_151+273delinsCGAGTTGG
NM_000717.5:c.58+266_58+273delinsCGAGTTGG MANE Select	NP_000708.1:n.58+266_58+273delinsCGAGTTGG
NR_137422.2:n.120+266_120+273delinsCGAGTTGG