Canonical Allele Identifier: CA688637892

Gene: CPNE8

Linked Data

• dbSNP Id: rs1160523564
• gnomAD v3: 12-38859323-TAA-T
• gnomAD v4: 12-38859323-TAA-T
• MyVariant Identifiers: chr12:g.39253126_39253127del (hg19) ; chr12:g.38859324_38859325del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.38859324_38859325del , CM000674.2:g.38859324_38859325del	GRCh38
NC_000012.11:g.39253126_39253127del , CM000674.1:g.39253126_39253127del	GRCh37
NC_000012.10:g.37539393_37539394del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331366.10:c.187-10663_187-10662del MANE Select	ENSP00000329748.5:n.187-10663_187-10662del
ENST00000331366.9:c.187-10663_187-10662del	ENSP00000329748.5:n.187-10663_187-10662del
ENST00000360449.3:c.151-10663_151-10662del	ENSP00000353633.3:n.151-10663_151-10662del
ENST00000550863.1:c.-297-10663_-297-10662del	ENSP00000447761.1:n.-297-10663_-297-10662del
NM_153634.2:c.187-10663_187-10662del	NP_705898.1:n.187-10663_187-10662del
XM_011537951.1:c.187-10663_187-10662del	XP_011536253.1:n.187-10663_187-10662del
XM_011537952.1:c.187-10663_187-10662del	XP_011536254.1:n.187-10663_187-10662del
XR_245896.2:n.788-10663_788-10662del
XR_944501.1:n.788-10663_788-10662del
XM_011537951.3:c.187-10663_187-10662del	XP_011536253.1:n.187-10663_187-10662del
XM_011537952.3:c.187-10663_187-10662del	XP_011536254.1:n.187-10663_187-10662del
XM_017018852.1:c.-297-10663_-297-10662del	XP_016874341.1:n.-297-10663_-297-10662del
XR_245896.4:n.244-10663_244-10662del
XR_944501.3:n.244-10663_244-10662del
NM_153634.3:c.187-10663_187-10662del MANE Select	NP_705898.1:n.187-10663_187-10662del