Canonical Allele Identifier: CA2030335660

Gene: CPNE8

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.38859420_38859424delinsGAAAT , CM000674.2:g.38859420_38859424delinsGAAAT	GRCh38
NC_000012.11:g.39253222_39253226delinsGAAAT , CM000674.1:g.39253222_39253226delinsGAAAT	GRCh37
NC_000012.10:g.37539489_37539493delinsGAAAT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331366.10:c.187-10762_187-10758delinsATTTC MANE Select	ENSP00000329748.5:n.187-10762_187-10758delinsATTTC
ENST00000331366.9:c.187-10762_187-10758delinsATTTC	ENSP00000329748.5:n.187-10762_187-10758delinsATTTC
ENST00000360449.3:c.151-10762_151-10758delinsATTTC	ENSP00000353633.3:n.151-10762_151-10758delinsATTTC
ENST00000550863.1:c.-297-10762_-297-10758delinsATTTC	ENSP00000447761.1:n.-297-10762_-297-10758delinsATTTC
NM_153634.2:c.187-10762_187-10758delinsATTTC	NP_705898.1:n.187-10762_187-10758delinsATTTC
XM_011537951.1:c.187-10762_187-10758delinsATTTC	XP_011536253.1:n.187-10762_187-10758delinsATTTC
XM_011537952.1:c.187-10762_187-10758delinsATTTC	XP_011536254.1:n.187-10762_187-10758delinsATTTC
XR_245896.2:n.788-10762_788-10758delinsATTTC
XR_944501.1:n.788-10762_788-10758delinsATTTC
XM_011537951.3:c.187-10762_187-10758delinsATTTC	XP_011536253.1:n.187-10762_187-10758delinsATTTC
XM_011537952.3:c.187-10762_187-10758delinsATTTC	XP_011536254.1:n.187-10762_187-10758delinsATTTC
XM_017018852.1:c.-297-10762_-297-10758delinsATTTC	XP_016874341.1:n.-297-10762_-297-10758delinsATTTC
XR_245896.4:n.244-10762_244-10758delinsATTTC
XR_944501.3:n.244-10762_244-10758delinsATTTC
NM_153634.3:c.187-10762_187-10758delinsATTTC MANE Select	NP_705898.1:n.187-10762_187-10758delinsATTTC