Canonical Allele Identifier: CA2030335665

Gene: CPNE8

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.38859431_38859432delinsGA , CM000674.2:g.38859431_38859432delinsGA	GRCh38
NC_000012.11:g.39253233_39253234delinsGA , CM000674.1:g.39253233_39253234delinsGA	GRCh37
NC_000012.10:g.37539500_37539501delinsGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331366.10:c.187-10770_187-10769delinsTC MANE Select	ENSP00000329748.5:n.187-10770_187-10769delinsTC
ENST00000331366.9:c.187-10770_187-10769delinsTC	ENSP00000329748.5:n.187-10770_187-10769delinsTC
ENST00000360449.3:c.151-10770_151-10769delinsTC	ENSP00000353633.3:n.151-10770_151-10769delinsTC
ENST00000550863.1:c.-297-10770_-297-10769delinsTC	ENSP00000447761.1:n.-297-10770_-297-10769delinsTC
NM_153634.2:c.187-10770_187-10769delinsTC	NP_705898.1:n.187-10770_187-10769delinsTC
XM_011537951.1:c.187-10770_187-10769delinsTC	XP_011536253.1:n.187-10770_187-10769delinsTC
XM_011537952.1:c.187-10770_187-10769delinsTC	XP_011536254.1:n.187-10770_187-10769delinsTC
XR_245896.2:n.788-10770_788-10769delinsTC
XR_944501.1:n.788-10770_788-10769delinsTC
XM_011537951.3:c.187-10770_187-10769delinsTC	XP_011536253.1:n.187-10770_187-10769delinsTC
XM_011537952.3:c.187-10770_187-10769delinsTC	XP_011536254.1:n.187-10770_187-10769delinsTC
XM_017018852.1:c.-297-10770_-297-10769delinsTC	XP_016874341.1:n.-297-10770_-297-10769delinsTC
XR_245896.4:n.244-10770_244-10769delinsTC
XR_944501.3:n.244-10770_244-10769delinsTC
NM_153634.3:c.187-10770_187-10769delinsTC MANE Select	NP_705898.1:n.187-10770_187-10769delinsTC