Canonical Allele Identifier: CA688637934

Gene: CPNE8

Linked Data

• dbSNP Id: rs1304026972
• MyVariant Identifiers: chr12:g.39253239_39253240insA (hg19) ; chr12:g.38859437_38859438insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.38859444dup , CM000674.2:g.38859444dup	GRCh38
NC_000012.11:g.39253246dup , CM000674.1:g.39253246dup	GRCh37
NC_000012.10:g.37539513dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331366.10:c.187-10776dup MANE Select	ENSP00000329748.5:n.187-10776dup
ENST00000331366.9:c.187-10776dup	ENSP00000329748.5:n.187-10776dup
ENST00000360449.3:c.151-10776dup	ENSP00000353633.3:n.151-10776dup
ENST00000550863.1:c.-297-10776dup	ENSP00000447761.1:n.-297-10776dup
NM_153634.2:c.187-10776dup	NP_705898.1:n.187-10776dup
XM_011537951.1:c.187-10776dup	XP_011536253.1:n.187-10776dup
XM_011537952.1:c.187-10776dup	XP_011536254.1:n.187-10776dup
XR_245896.2:n.788-10776dup
XR_944501.1:n.788-10776dup
XM_011537951.3:c.187-10776dup	XP_011536253.1:n.187-10776dup
XM_011537952.3:c.187-10776dup	XP_011536254.1:n.187-10776dup
XM_017018852.1:c.-297-10776dup	XP_016874341.1:n.-297-10776dup
XR_245896.4:n.244-10776dup
XR_944501.3:n.244-10776dup
NM_153634.3:c.187-10776dup MANE Select	NP_705898.1:n.187-10776dup