Canonical Allele Identifier: CA7511080

Gene: CAPN3

Linked Data

• dbSNP Id: rs759912965
• ExAC: 15:42681090 CTG / C
• gnomAD v2: 15-42681090-CTG-C
• gnomAD v4: 15-42388892-CTG-C
• MyVariant Identifiers: chr15:g.42681091_42681092del (hg19) ; chr15:g.42388893_42388894del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42388895_42388896del , CM000677.2:g.42388895_42388896del	GRCh38
NC_000015.9:g.42681093_42681094del , CM000677.1:g.42681093_42681094del	GRCh37
NC_000015.8:g.40468385_40468386del	NCBI36
NG_008660.1:g.45793_45794del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.633-33_633-32del	ENSP00000183936.4:n.633-33_633-32del
ENST00000357568.8:c.633-33_633-32del	ENSP00000350181.3:n.633-33_633-32del
ENST00000397163.8:c.633-33_633-32del MANE Select	ENSP00000380349.3:n.633-33_633-32del
ENST00000466369.5:n.1142-33_1142-32del
ENST00000483208.5:n.864-33_864-32del
ENST00000495723.1:n.864-33_864-32del
ENST00000549793.5:n.864-33_864-32del
ENST00000638141.2:n.648-33_648-32del
ENST00000673705.1:c.70+4343_70+4344del	ENSP00000501021.1:n.70+4343_70+4344del
ENST00000318023.11:c.633-33_633-32del	ENSP00000326281.8:n.633-33_633-32del
ENST00000349748.7:c.633-33_633-32del	ENSP00000183936.4:n.633-33_633-32del
ENST00000357568.7:c.633-33_633-32del	ENSP00000350181.3:n.633-33_633-32del
ENST00000397163.7:c.633-33_633-32del	ENSP00000380349.3:n.633-33_633-32del
NM_000070.2:c.633-33_633-32del	NP_000061.1:n.633-33_633-32del
NM_024344.1:c.633-33_633-32del	NP_077320.1:n.633-33_633-32del
NM_173087.1:c.633-33_633-32del	NP_775110.1:n.633-33_633-32del
NM_000070.3:c.633-33_633-32del MANE Select	NP_000061.1:n.633-33_633-32del
NM_024344.2:c.633-33_633-32del	NP_077320.1:n.633-33_633-32del
NM_173087.2:c.633-33_633-32del	NP_775110.1:n.633-33_633-32del