Canonical Allele Identifier: CA2172711929
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42392398_42392401delinsATTG , CM000677.2:g.42392398_42392401delinsATTG GRCh38
NC_000015.9:g.42684596_42684599delinsATTG , CM000677.1:g.42684596_42684599delinsATTG GRCh37
NC_000015.8:g.40471888_40471891delinsATTG NCBI36
NG_008660.1:g.49296_49299delinsATTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.802-241_802-238delinsATTG ENSP00000183936.4:n.802-241_802-238delinsATTG
ENST00000357568.8:c.946-241_946-238delinsATTG ENSP00000350181.3:n.946-241_946-238delinsATTG
ENST00000397163.8:c.946-241_946-238delinsATTG MANE Select ENSP00000380349.3:n.946-241_946-238delinsATTG
ENST00000466369.5:n.1455-241_1455-238delinsATTG
ENST00000483208.5:n.1177-241_1177-238delinsATTG
ENST00000495723.1:n.1177-241_1177-238delinsATTG
ENST00000549793.5:n.1177-241_1177-238delinsATTG
ENST00000638141.2:n.817-241_817-238delinsATTG
ENST00000673705.1:c.71-4402_71-4399delinsATTG ENSP00000501021.1:n.71-4402_71-4399delinsATTG
ENST00000318023.11:c.802-241_802-238delinsATTG ENSP00000326281.8:n.802-241_802-238delinsATTG
ENST00000349748.7:c.802-241_802-238delinsATTG ENSP00000183936.4:n.802-241_802-238delinsATTG
ENST00000357568.7:c.946-241_946-238delinsATTG ENSP00000350181.3:n.946-241_946-238delinsATTG
ENST00000397163.7:c.946-241_946-238delinsATTG ENSP00000380349.3:n.946-241_946-238delinsATTG
NM_000070.2:c.946-241_946-238delinsATTG NP_000061.1:n.946-241_946-238delinsATTG
NM_024344.1:c.946-241_946-238delinsATTG NP_077320.1:n.946-241_946-238delinsATTG
NM_173087.1:c.802-241_802-238delinsATTG NP_775110.1:n.802-241_802-238delinsATTG
NM_000070.3:c.946-241_946-238delinsATTG MANE Select NP_000061.1:n.946-241_946-238delinsATTG
NM_024344.2:c.946-241_946-238delinsATTG NP_077320.1:n.946-241_946-238delinsATTG
NM_173087.2:c.802-241_802-238delinsATTG NP_775110.1:n.802-241_802-238delinsATTG