Canonical Allele Identifier: CA346886

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 197624
• ClinVar RCV Id: RCV000178708 ; RCV000412949 ; RCV002252023 ; RCV003474934
• dbSNP Id: rs794727697
• ExAC: 15:42681248 TGAA / T
• gnomAD v2: 15-42681248-TGAA-T
• gnomAD v3: 15-42389050-TGAA-T
• gnomAD v4: 15-42389050-TGAA-T
• MyVariant Identifiers: chr15:g.42681252_42681254del (hg19) ; chr15:g.42681249_42681251del (hg19) ; chr15:g.42389054_42389056del (hg38) ; chr15:g.42389052_42389054del (hg38) ; chr15:g.42389051_42389053del (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389054_42389056del , CM000677.2:g.42389054_42389056del	GRCh38
NC_000015.9:g.42681252_42681254del , CM000677.1:g.42681252_42681254del	GRCh37
NC_000015.8:g.40468544_40468546del	NCBI36
NG_008660.1:g.45952_45954del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.759_761del	ENSP00000183936.4:p.Lys254del
ENST00000357568.8:c.759_761del	ENSP00000350181.3:p.Lys254del
ENST00000397163.8:c.759_761del MANE Select	ENSP00000380349.3:p.Lys254del
ENST00000466369.5:n.1268_1270del
ENST00000483208.5:n.990_992del
ENST00000495723.1:n.990_992del
ENST00000549793.5:n.990_992del
ENST00000638141.2:n.774_776del
ENST00000673705.1:c.70+4502_70+4504del	ENSP00000501021.1:n.70+4502_70+4504del
ENST00000318023.11:c.759_761del	ENSP00000326281.8:p.Lys254del
ENST00000349748.7:c.759_761del	ENSP00000183936.4:p.Lys254del
ENST00000357568.7:c.759_761del	ENSP00000350181.3:p.Lys254del
ENST00000397163.7:c.759_761del	ENSP00000380349.3:p.Lys254del
NM_000070.2:c.759_761del	NP_000061.1:p.Lys254del
NM_024344.1:c.759_761del	NP_077320.1:p.Lys254del
NM_173087.1:c.759_761del	NP_775110.1:p.Lys254del
NM_000070.3:c.759_761del MANE Select	NP_000061.1:p.Lys254del
NM_024344.2:c.759_761del	NP_077320.1:p.Lys254del
NM_173087.2:c.759_761del	NP_775110.1:p.Lys254del