Canonical Allele Identifier: CA2795643734
Gene: CPNE8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.38859212_38859213insCA , CM000674.2:g.38859212_38859213insCA GRCh38
NC_000012.11:g.39253014_39253015insCA , CM000674.1:g.39253014_39253015insCA GRCh37
NC_000012.10:g.37539281_37539282insCA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000331366.10:c.187-10551_187-10550insTG MANE Select ENSP00000329748.5:n.187-10551_187-10550insTG
ENST00000331366.9:c.187-10551_187-10550insTG ENSP00000329748.5:n.187-10551_187-10550insTG
ENST00000360449.3:c.151-10551_151-10550insTG ENSP00000353633.3:n.151-10551_151-10550insTG
ENST00000550863.1:c.-297-10551_-297-10550insTG ENSP00000447761.1:n.-297-10551_-297-10550insTG
NM_153634.2:c.187-10551_187-10550insTG NP_705898.1:n.187-10551_187-10550insTG
XM_011537951.1:c.187-10551_187-10550insTG XP_011536253.1:n.187-10551_187-10550insTG
XM_011537952.1:c.187-10551_187-10550insTG XP_011536254.1:n.187-10551_187-10550insTG
XR_245896.2:n.788-10551_788-10550insTG
XR_944501.1:n.788-10551_788-10550insTG
XM_011537951.3:c.187-10551_187-10550insTG XP_011536253.1:n.187-10551_187-10550insTG
XM_011537952.3:c.187-10551_187-10550insTG XP_011536254.1:n.187-10551_187-10550insTG
XM_017018852.1:c.-297-10551_-297-10550insTG XP_016874341.1:n.-297-10551_-297-10550insTG
XR_245896.4:n.244-10551_244-10550insTG
XR_944501.3:n.244-10551_244-10550insTG
NM_153634.3:c.187-10551_187-10550insTG MANE Select NP_705898.1:n.187-10551_187-10550insTG