Canonical Allele Identifier: CA1406123119
Gene: CLSTN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.140528396_140528398delinsACT , CM000665.2:g.140528396_140528398delinsACT GRCh38
NC_000003.11:g.140247238_140247240delinsACT , CM000665.1:g.140247238_140247240delinsACT GRCh37
NC_000003.10:g.141729928_141729930delinsACT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000458420.7:c.1345-3928_1345-3926delinsACT MANE Select ENSP00000402460.2:n.1345-3928_1345-3926delinsACT
ENST00000511524.1:n.1533-3928_1533-3926delinsACT
ENST00000620185.1:c.1153-3928_1153-3926delinsACT ENSP00000478883.1:n.1153-3928_1153-3926delinsACT
NM_022131.2:c.1345-3928_1345-3926delinsACT NP_071414.2:n.1345-3928_1345-3926delinsACT
XM_017007022.2:c.1270-3928_1270-3926delinsACT XP_016862511.1:n.1270-3928_1270-3926delinsACT
NM_022131.3:c.1345-3928_1345-3926delinsACT MANE Select NP_071414.2:n.1345-3928_1345-3926delinsACT