Canonical Allele Identifier: CA7510900

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 677710
• ClinVar RCV Id: RCV000837269
• dbSNP Id: rs377626958
• ExAC: 15:42652342 T / TG
• gnomAD v2: 15-42652342-T-TG
• gnomAD v3: 15-42360144-T-TG
• gnomAD v4: 15-42360144-T-TG
• MyVariant Identifiers: chr15:g.42652342_42652343insG (hg19) ; chr15:g.42360144_42360145insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42360144_42360145insG , CM000677.2:g.42360144_42360145insG	GRCh38
NC_000015.9:g.42652342_42652343insG , CM000677.1:g.42652342_42652343insG	GRCh37
NC_000015.8:g.40439634_40439635insG	NCBI36
NG_008660.1:g.17042_17043insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.309+30_309+31insG	ENSP00000183936.4:n.309+30_309+31insG
ENST00000357568.8:c.309+30_309+31insG	ENSP00000350181.3:n.309+30_309+31insG
ENST00000397163.8:c.309+30_309+31insG MANE Select	ENSP00000380349.3:n.309+30_309+31insG
ENST00000466369.5:n.540+5691_540+5692insG
ENST00000483208.5:n.540+5691_540+5692insG
ENST00000495723.1:n.540+5691_540+5692insG
ENST00000549793.5:n.540+5691_540+5692insG
ENST00000318023.11:c.309+30_309+31insG	ENSP00000326281.8:n.309+30_309+31insG
ENST00000349748.7:c.309+30_309+31insG	ENSP00000183936.4:n.309+30_309+31insG
ENST00000357568.7:c.309+30_309+31insG	ENSP00000350181.3:n.309+30_309+31insG
ENST00000397163.7:c.309+30_309+31insG	ENSP00000380349.3:n.309+30_309+31insG
NM_000070.2:c.309+30_309+31insG	NP_000061.1:n.309+30_309+31insG
NM_024344.1:c.309+30_309+31insG	NP_077320.1:n.309+30_309+31insG
NM_173087.1:c.309+30_309+31insG	NP_775110.1:n.309+30_309+31insG
NM_000070.3:c.309+30_309+31insG MANE Select	NP_000061.1:n.309+30_309+31insG
NM_024344.2:c.309+30_309+31insG	NP_077320.1:n.309+30_309+31insG
NM_173087.2:c.309+30_309+31insG	NP_775110.1:n.309+30_309+31insG