Canonical Allele Identifier: CA618001552

Gene: CAPN3

Linked Data

• dbSNP Id: rs1290954068
• gnomAD v2: 15-42695050-CCA-C
• gnomAD v4: 15-42402852-CCA-C
• MyVariant Identifiers: chr15:g.42695051_42695052del (hg19) ; chr15:g.42402853_42402854del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402853_42402854del , CM000677.2:g.42402853_42402854del	GRCh38
NC_000015.9:g.42695051_42695052del , CM000677.1:g.42695051_42695052del	GRCh37
NC_000015.8:g.40482343_40482344del	NCBI36
NG_008660.1:g.59751_59752del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1452_1453del	ENSP00000183936.4:p.Arg485GlufsTer?
ENST00000357568.8:c.1596_1597del	ENSP00000350181.3:p.Arg533GlufsTer?
ENST00000397163.8:c.1596_1597del MANE Select	ENSP00000380349.3:p.Arg533GlufsTer?
ENST00000466369.5:n.2105_2106del
ENST00000483208.5:n.2485_2486del
ENST00000495723.1:n.2485_2486del
ENST00000549793.5:n.1827_1828del
ENST00000638141.2:n.1467_1468del
ENST00000673646.1:c.60_61del	ENSP00000501007.1:p.Arg21GlufsTer?
ENST00000673705.1:c.309+3201_309+3202del	ENSP00000501021.1:n.309+3201_309+3202del
ENST00000673813.1:n.518_519del
ENST00000318023.11:c.1452_1453del	ENSP00000326281.8:p.Arg485GlufsTer?
ENST00000349748.7:c.1452_1453del	ENSP00000183936.4:p.Arg485GlufsTer?
ENST00000357568.7:c.1596_1597del	ENSP00000350181.3:p.Arg533GlufsTer?
ENST00000397163.7:c.1596_1597del	ENSP00000380349.3:p.Arg533GlufsTer?
ENST00000397200.8:c.60_61del	ENSP00000380384.4:p.Arg21GlufsTer?
ENST00000567071.5:c.55_56del
ENST00000569827.5:c.60_61del	ENSP00000454379.1:p.Arg21GlufsTer?
NM_000070.2:c.1596_1597del	NP_000061.1:p.Arg533GlufsTer?
NM_024344.1:c.1596_1597del	NP_077320.1:p.Arg533GlufsTer?
NM_173087.1:c.1452_1453del	NP_775110.1:p.Arg485GlufsTer?
NM_173088.1:c.60_61del	NP_775111.1:p.Arg21GlufsTer?
NM_000070.3:c.1596_1597del MANE Select	NP_000061.1:p.Arg533GlufsTer?
NM_024344.2:c.1596_1597del	NP_077320.1:p.Arg533GlufsTer?
NM_173087.2:c.1452_1453del	NP_775110.1:p.Arg485GlufsTer?
NM_173088.2:c.60_61del	NP_775111.1:p.Arg21GlufsTer?