Canonical Allele Identifier: CA2172710141

Gene: CAPN3

Linked Data

• dbSNP Id: rs2053469053

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42388675_42388679dup , CM000677.2:g.42388675_42388679dup	GRCh38
NC_000015.9:g.42680873_42680877dup , CM000677.1:g.42680873_42680877dup	GRCh37
NC_000015.8:g.40468165_40468169dup	NCBI36
NG_008660.1:g.45573_45577dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.633-253_633-249dup	ENSP00000183936.4:n.633-253_633-249dup
ENST00000357568.8:c.633-253_633-249dup	ENSP00000350181.3:n.633-253_633-249dup
ENST00000397163.8:c.633-253_633-249dup MANE Select	ENSP00000380349.3:n.633-253_633-249dup
ENST00000466369.5:n.1142-253_1142-249dup
ENST00000483208.5:n.864-253_864-249dup
ENST00000495723.1:n.864-253_864-249dup
ENST00000549793.5:n.864-253_864-249dup
ENST00000638141.2:n.648-253_648-249dup
ENST00000673705.1:c.70+4123_70+4127dup	ENSP00000501021.1:n.70+4123_70+4127dup
ENST00000318023.11:c.633-253_633-249dup	ENSP00000326281.8:n.633-253_633-249dup
ENST00000349748.7:c.633-253_633-249dup	ENSP00000183936.4:n.633-253_633-249dup
ENST00000357568.7:c.633-253_633-249dup	ENSP00000350181.3:n.633-253_633-249dup
ENST00000397163.7:c.633-253_633-249dup	ENSP00000380349.3:n.633-253_633-249dup
NM_000070.2:c.633-253_633-249dup	NP_000061.1:n.633-253_633-249dup
NM_024344.1:c.633-253_633-249dup	NP_077320.1:n.633-253_633-249dup
NM_173087.1:c.633-253_633-249dup	NP_775110.1:n.633-253_633-249dup
NM_000070.3:c.633-253_633-249dup MANE Select	NP_000061.1:n.633-253_633-249dup
NM_024344.2:c.633-253_633-249dup	NP_077320.1:n.633-253_633-249dup
NM_173087.2:c.633-253_633-249dup	NP_775110.1:n.633-253_633-249dup