Canonical Allele Identifier: CA7510910

Gene: CAPN3

Linked Data

• dbSNP Id: rs750176040
• ExAC: 15:42652363 TCTCA / T
• gnomAD v2: 15-42652363-TCTCA-T
• gnomAD v3: 15-42360165-TCTCA-T
• gnomAD v4: 15-42360165-TCTCA-T
• MyVariant Identifiers: chr15:g.42652364_42652367del (hg19) ; chr15:g.42360166_42360169del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42360170_42360173del , CM000677.2:g.42360170_42360173del	GRCh38
NC_000015.9:g.42652368_42652371del , CM000677.1:g.42652368_42652371del	GRCh37
NC_000015.8:g.40439660_40439663del	NCBI36
NG_008660.1:g.17068_17071del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.309+56_309+59del	ENSP00000183936.4:n.309+56_309+59del
ENST00000357568.8:c.309+56_309+59del	ENSP00000350181.3:n.309+56_309+59del
ENST00000397163.8:c.309+56_309+59del MANE Select	ENSP00000380349.3:n.309+56_309+59del
ENST00000466369.5:n.540+5717_540+5720del
ENST00000483208.5:n.540+5717_540+5720del
ENST00000495723.1:n.540+5717_540+5720del
ENST00000549793.5:n.540+5717_540+5720del
ENST00000318023.11:c.309+56_309+59del	ENSP00000326281.8:n.309+56_309+59del
ENST00000349748.7:c.309+56_309+59del	ENSP00000183936.4:n.309+56_309+59del
ENST00000357568.7:c.309+56_309+59del	ENSP00000350181.3:n.309+56_309+59del
ENST00000397163.7:c.309+56_309+59del	ENSP00000380349.3:n.309+56_309+59del
NM_000070.2:c.309+56_309+59del	NP_000061.1:n.309+56_309+59del
NM_024344.1:c.309+56_309+59del	NP_077320.1:n.309+56_309+59del
NM_173087.1:c.309+56_309+59del	NP_775110.1:n.309+56_309+59del
NM_000070.3:c.309+56_309+59del MANE Select	NP_000061.1:n.309+56_309+59del
NM_024344.2:c.309+56_309+59del	NP_077320.1:n.309+56_309+59del
NM_173087.2:c.309+56_309+59del	NP_775110.1:n.309+56_309+59del