Canonical Allele Identifier: CA1406123084
Gene: CLSTN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.140528354_140528356delinsGCA , CM000665.2:g.140528354_140528356delinsGCA GRCh38
NC_000003.11:g.140247196_140247198delinsGCA , CM000665.1:g.140247196_140247198delinsGCA GRCh37
NC_000003.10:g.141729886_141729888delinsGCA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000458420.7:c.1345-3970_1345-3968delinsGCA MANE Select ENSP00000402460.2:n.1345-3970_1345-3968delinsGCA
ENST00000511524.1:n.1533-3970_1533-3968delinsGCA
ENST00000620185.1:c.1153-3970_1153-3968delinsGCA ENSP00000478883.1:n.1153-3970_1153-3968delinsGCA
NM_022131.2:c.1345-3970_1345-3968delinsGCA NP_071414.2:n.1345-3970_1345-3968delinsGCA
XM_017007022.2:c.1270-3970_1270-3968delinsGCA XP_016862511.1:n.1270-3970_1270-3968delinsGCA
NM_022131.3:c.1345-3970_1345-3968delinsGCA MANE Select NP_071414.2:n.1345-3970_1345-3968delinsGCA
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