Canonical Allele Identifier: CA912980492

Gene: CAPN3

Linked Data

• MyVariant Identifiers: chr15:g.42695095_42695096del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402897_42402898del , CM000677.2:g.42402897_42402898del	GRCh38
NC_000015.9:g.42695095_42695096del , CM000677.1:g.42695095_42695096del	GRCh37
NC_000015.8:g.40482387_40482388del	NCBI36
NG_008660.1:g.59795_59796del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1496_1497del	ENSP00000183936.4:p.Phe499SerfsTer29
ENST00000357568.8:c.1640_1641del	ENSP00000350181.3:p.Phe547SerfsTer29
ENST00000397163.8:c.1640_1641del MANE Select	ENSP00000380349.3:p.Phe547SerfsTer29
ENST00000466369.5:n.2149_2150del
ENST00000483208.5:n.2529_2530del
ENST00000495723.1:n.2529_2530del
ENST00000549793.5:n.1871_1872del
ENST00000638141.2:n.1511_1512del
ENST00000673646.1:c.104_105del	ENSP00000501007.1:p.Phe35SerfsTer29
ENST00000673705.1:c.309+3245_309+3246del	ENSP00000501021.1:n.309+3245_309+3246del
ENST00000673813.1:n.562_563del
ENST00000318023.11:c.1496_1497del	ENSP00000326281.8:p.Phe499SerfsTer29
ENST00000349748.7:c.1496_1497del	ENSP00000183936.4:p.Phe499SerfsTer29
ENST00000357568.7:c.1640_1641del	ENSP00000350181.3:p.Phe547SerfsTer29
ENST00000397163.7:c.1640_1641del	ENSP00000380349.3:p.Phe547SerfsTer29
ENST00000397200.8:c.104_105del	ENSP00000380384.4:p.Phe35SerfsTer29
ENST00000567071.5:c.99_100del
ENST00000569827.5:c.104_105del	ENSP00000454379.1:p.Phe35SerfsTer29
NM_000070.2:c.1640_1641del	NP_000061.1:p.Phe547SerfsTer29
NM_024344.1:c.1640_1641del	NP_077320.1:p.Phe547SerfsTer29
NM_173087.1:c.1496_1497del	NP_775110.1:p.Phe499SerfsTer29
NM_173088.1:c.104_105del	NP_775111.1:p.Phe35SerfsTer29
NM_000070.3:c.1640_1641del MANE Select	NP_000061.1:p.Phe547SerfsTer29
NM_024344.2:c.1640_1641del	NP_077320.1:p.Phe547SerfsTer29
NM_173087.2:c.1496_1497del	NP_775110.1:p.Phe499SerfsTer29
NM_173088.2:c.104_105del	NP_775111.1:p.Phe35SerfsTer29