Canonical Allele Identifier: CA712897280

Gene: CAPN3

Linked Data

• dbSNP Id: rs1423088949
• gnomAD v3: 15-42392398-ATTG-A
• gnomAD v4: 15-42392398-ATTG-A
• MyVariant Identifiers: chr15:g.42684597_42684599del (hg19) ; chr15:g.42392399_42392401del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42392399_42392401del , CM000677.2:g.42392399_42392401del	GRCh38
NC_000015.9:g.42684597_42684599del , CM000677.1:g.42684597_42684599del	GRCh37
NC_000015.8:g.40471889_40471891del	NCBI36
NG_008660.1:g.49297_49299del

Transcript Alleles

HGVS	Amino-acid change
ENST00000349748.8:c.802-240_802-238del	ENSP00000183936.4:n.802-240_802-238del
ENST00000357568.8:c.946-240_946-238del	ENSP00000350181.3:n.946-240_946-238del
ENST00000397163.8:c.946-240_946-238del MANE Select	ENSP00000380349.3:n.946-240_946-238del
ENST00000466369.5:n.1455-240_1455-238del
ENST00000483208.5:n.1177-240_1177-238del
ENST00000495723.1:n.1177-240_1177-238del
ENST00000549793.5:n.1177-240_1177-238del
ENST00000638141.2:n.817-240_817-238del
ENST00000673705.1:c.71-4401_71-4399del	ENSP00000501021.1:n.71-4401_71-4399del
ENST00000318023.11:c.802-240_802-238del	ENSP00000326281.8:n.802-240_802-238del
ENST00000349748.7:c.802-240_802-238del	ENSP00000183936.4:n.802-240_802-238del
ENST00000357568.7:c.946-240_946-238del	ENSP00000350181.3:n.946-240_946-238del
ENST00000397163.7:c.946-240_946-238del	ENSP00000380349.3:n.946-240_946-238del
NM_000070.2:c.946-240_946-238del	NP_000061.1:n.946-240_946-238del
NM_024344.1:c.946-240_946-238del	NP_077320.1:n.946-240_946-238del
NM_173087.1:c.802-240_802-238del	NP_775110.1:n.802-240_802-238del
NM_000070.3:c.946-240_946-238del MANE Select	NP_000061.1:n.946-240_946-238del
NM_024344.2:c.946-240_946-238del	NP_077320.1:n.946-240_946-238del
NM_173087.2:c.802-240_802-238del	NP_775110.1:n.802-240_802-238del