Canonical Allele Identifier: CA969127992

Gene: CAPN3

Linked Data

• dbSNP Id: rs2053918881
• gnomAD v3: 15-42403013-G-GCCCAGCTTT
• gnomAD v4: 15-42403013-G-GCCCAGCTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42403018_42403026dup , CM000677.2:g.42403018_42403026dup	GRCh38
NC_000015.9:g.42695216_42695224dup , CM000677.1:g.42695216_42695224dup	GRCh37
NC_000015.8:g.40482508_40482516dup	NCBI36
NG_008660.1:g.59916_59924dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1601+16_1601+24dup	ENSP00000183936.4:n.1601+16_1601+24dup
ENST00000357568.8:c.1745+16_1745+24dup	ENSP00000350181.3:n.1745+16_1745+24dup
ENST00000397163.8:c.1745+16_1745+24dup MANE Select	ENSP00000380349.3:n.1745+16_1745+24dup
ENST00000466369.5:n.2254+16_2254+24dup
ENST00000483208.5:n.2634+16_2634+24dup
ENST00000495723.1:n.2634+16_2634+24dup
ENST00000549793.5:n.1976+16_1976+24dup
ENST00000638141.2:n.1616+16_1616+24dup
ENST00000673646.1:c.209+16_209+24dup	ENSP00000501007.1:n.209+16_209+24dup
ENST00000673705.1:c.309+3366_309+3374dup	ENSP00000501021.1:n.309+3366_309+3374dup
ENST00000673813.1:n.580+103_580+111dup
ENST00000318023.11:c.1601+16_1601+24dup	ENSP00000326281.8:n.1601+16_1601+24dup
ENST00000349748.7:c.1601+16_1601+24dup	ENSP00000183936.4:n.1601+16_1601+24dup
ENST00000357568.7:c.1745+16_1745+24dup	ENSP00000350181.3:n.1745+16_1745+24dup
ENST00000397163.7:c.1745+16_1745+24dup	ENSP00000380349.3:n.1745+16_1745+24dup
ENST00000397200.8:c.209+16_209+24dup	ENSP00000380384.4:n.209+16_209+24dup
ENST00000567071.5:c.204+16_204+24dup
ENST00000569827.5:c.209+16_209+24dup	ENSP00000454379.1:n.209+16_209+24dup
NM_000070.2:c.1745+16_1745+24dup	NP_000061.1:n.1745+16_1745+24dup
NM_024344.1:c.1745+16_1745+24dup	NP_077320.1:n.1745+16_1745+24dup
NM_173087.1:c.1601+16_1601+24dup	NP_775110.1:n.1601+16_1601+24dup
NM_173088.1:c.209+16_209+24dup	NP_775111.1:n.209+16_209+24dup
NM_000070.3:c.1745+16_1745+24dup MANE Select	NP_000061.1:n.1745+16_1745+24dup
NM_024344.2:c.1745+16_1745+24dup	NP_077320.1:n.1745+16_1745+24dup
NM_173087.2:c.1601+16_1601+24dup	NP_775110.1:n.1601+16_1601+24dup
NM_173088.2:c.209+16_209+24dup	NP_775111.1:n.209+16_209+24dup