Canonical Allele Identifier: CA712895647

Gene: CAPN3

Linked Data

• dbSNP Id: rs1164603859
• gnomAD v4: 15-42389188-A-ACAGAG
• MyVariant Identifiers: chr15:g.42681386_42681387insCAGAG (hg19) ; chr15:g.42389188_42389189insCAGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389190_42389194dup , CM000677.2:g.42389190_42389194dup	GRCh38
NC_000015.9:g.42681388_42681392dup , CM000677.1:g.42681388_42681392dup	GRCh37
NC_000015.8:g.40468680_40468684dup	NCBI36
NG_008660.1:g.46088_46092dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.801+94_801+98dup	ENSP00000183936.4:n.801+94_801+98dup
ENST00000357568.8:c.801+94_801+98dup	ENSP00000350181.3:n.801+94_801+98dup
ENST00000397163.8:c.801+94_801+98dup MANE Select	ENSP00000380349.3:n.801+94_801+98dup
ENST00000466369.5:n.1310+94_1310+98dup
ENST00000483208.5:n.1032+94_1032+98dup
ENST00000495723.1:n.1032+94_1032+98dup
ENST00000549793.5:n.1032+94_1032+98dup
ENST00000638141.2:n.816+94_816+98dup
ENST00000673705.1:c.70+4638_70+4642dup	ENSP00000501021.1:n.70+4638_70+4642dup
ENST00000318023.11:c.801+94_801+98dup	ENSP00000326281.8:n.801+94_801+98dup
ENST00000349748.7:c.801+94_801+98dup	ENSP00000183936.4:n.801+94_801+98dup
ENST00000357568.7:c.801+94_801+98dup	ENSP00000350181.3:n.801+94_801+98dup
ENST00000397163.7:c.801+94_801+98dup	ENSP00000380349.3:n.801+94_801+98dup
NM_000070.2:c.801+94_801+98dup	NP_000061.1:n.801+94_801+98dup
NM_024344.1:c.801+94_801+98dup	NP_077320.1:n.801+94_801+98dup
NM_173087.1:c.801+94_801+98dup	NP_775110.1:n.801+94_801+98dup
NM_000070.3:c.801+94_801+98dup MANE Select	NP_000061.1:n.801+94_801+98dup
NM_024344.2:c.801+94_801+98dup	NP_077320.1:n.801+94_801+98dup
NM_173087.2:c.801+94_801+98dup	NP_775110.1:n.801+94_801+98dup