Canonical Allele Identifier: CA2172710294

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389000_42389002delinsGGC , CM000677.2:g.42389000_42389002delinsGGC	GRCh38
NC_000015.9:g.42681198_42681200delinsGGC , CM000677.1:g.42681198_42681200delinsGGC	GRCh37
NC_000015.8:g.40468490_40468492delinsGGC	NCBI36
NG_008660.1:g.45898_45900delinsGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.705_707delinsGGC	ENSP00000183936.4:p.Val235=
ENST00000357568.8:c.705_707delinsGGC	ENSP00000350181.3:p.Val235=
ENST00000397163.8:c.705_707delinsGGC MANE Select	ENSP00000380349.3:p.Val235=
ENST00000466369.5:n.1214_1216delinsGGC
ENST00000483208.5:n.936_938delinsGGC
ENST00000495723.1:n.936_938delinsGGC
ENST00000549793.5:n.936_938delinsGGC
ENST00000638141.2:n.720_722delinsGGC
ENST00000673705.1:c.70+4448_70+4450delinsGGC	ENSP00000501021.1:n.70+4448_70+4450delinsGGC
ENST00000318023.11:c.705_707delinsGGC	ENSP00000326281.8:p.Val235=
ENST00000349748.7:c.705_707delinsGGC	ENSP00000183936.4:p.Val235=
ENST00000357568.7:c.705_707delinsGGC	ENSP00000350181.3:p.Val235=
ENST00000397163.7:c.705_707delinsGGC	ENSP00000380349.3:p.Val235=
NM_000070.2:c.705_707delinsGGC	NP_000061.1:p.Val235=
NM_024344.1:c.705_707delinsGGC	NP_077320.1:p.Val235=
NM_173087.1:c.705_707delinsGGC	NP_775110.1:p.Val235=
NM_000070.3:c.705_707delinsGGC MANE Select	NP_000061.1:p.Val235=
NM_024344.2:c.705_707delinsGGC	NP_077320.1:p.Val235=
NM_173087.2:c.705_707delinsGGC	NP_775110.1:p.Val235=