Canonical Allele Identifier: CA1406122931
Gene: CLSTN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.140528218_140528219delinsGC , CM000665.2:g.140528218_140528219delinsGC GRCh38
NC_000003.11:g.140247060_140247061delinsGC , CM000665.1:g.140247060_140247061delinsGC GRCh37
NC_000003.10:g.141729750_141729751delinsGC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000458420.7:c.1345-4106_1345-4105delinsGC MANE Select ENSP00000402460.2:n.1345-4106_1345-4105delinsGC
ENST00000511524.1:n.1533-4106_1533-4105delinsGC
ENST00000620185.1:c.1153-4106_1153-4105delinsGC ENSP00000478883.1:n.1153-4106_1153-4105delinsGC
NM_022131.2:c.1345-4106_1345-4105delinsGC NP_071414.2:n.1345-4106_1345-4105delinsGC
XM_017007022.2:c.1270-4106_1270-4105delinsGC XP_016862511.1:n.1270-4106_1270-4105delinsGC
NM_022131.3:c.1345-4106_1345-4105delinsGC MANE Select NP_071414.2:n.1345-4106_1345-4105delinsGC