Canonical Allele Identifier: CA2172697334

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42359864_42359865delinsCA , CM000677.2:g.42359864_42359865delinsCA	GRCh38
NC_000015.9:g.42652062_42652063delinsCA , CM000677.1:g.42652062_42652063delinsCA	GRCh37
NC_000015.8:g.40439354_40439355delinsCA	NCBI36
NG_008660.1:g.16762_16763delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000349748.8:c.59_60delinsCA	ENSP00000183936.4:p.Pro20=
ENST00000357568.8:c.59_60delinsCA	ENSP00000350181.3:p.Pro20=
ENST00000397163.8:c.59_60delinsCA MANE Select	ENSP00000380349.3:p.Pro20=
ENST00000466369.5:n.540+5411_540+5412delinsCA
ENST00000483208.5:n.540+5411_540+5412delinsCA
ENST00000495723.1:n.540+5411_540+5412delinsCA
ENST00000549793.5:n.540+5411_540+5412delinsCA
ENST00000318023.11:c.59_60delinsCA	ENSP00000326281.8:p.Pro20=
ENST00000349748.7:c.59_60delinsCA	ENSP00000183936.4:p.Pro20=
ENST00000357568.7:c.59_60delinsCA	ENSP00000350181.3:p.Pro20=
ENST00000397163.7:c.59_60delinsCA	ENSP00000380349.3:p.Pro20=
NM_000070.2:c.59_60delinsCA	NP_000061.1:p.Pro20=
NM_024344.1:c.59_60delinsCA	NP_077320.1:p.Pro20=
NM_173087.1:c.59_60delinsCA	NP_775110.1:p.Pro20=
NM_000070.3:c.59_60delinsCA MANE Select	NP_000061.1:p.Pro20=
NM_024344.2:c.59_60delinsCA	NP_077320.1:p.Pro20=
NM_173087.2:c.59_60delinsCA	NP_775110.1:p.Pro20=