Canonical Allele Identifier: CA2172712043

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42392613_42392614delinsTG , CM000677.2:g.42392613_42392614delinsTG	GRCh38
NC_000015.9:g.42684811_42684812delinsTG , CM000677.1:g.42684811_42684812delinsTG	GRCh37
NC_000015.8:g.40472103_40472104delinsTG	NCBI36
NG_008660.1:g.49511_49512delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000349748.8:c.802-26_802-25delinsTG	ENSP00000183936.4:n.802-26_802-25delinsTG...
ENST00000357568.8:c.946-26_946-25delinsTG	ENSP00000350181.3:n.946-26_946-25delinsTG...
ENST00000397163.8:c.946-26_946-25delinsTG MANE Select	ENSP00000380349.3:n.946-26_946-25delinsTG...
ENST00000466369.5:n.1455-26_1455-25delinsTG
ENST00000483208.5:n.1177-26_1177-25delinsTG
ENST00000495723.1:n.1177-26_1177-25delinsTG
ENST00000549793.5:n.1177-26_1177-25delinsTG
ENST00000638141.2:n.817-26_817-25delinsTG
ENST00000673705.1:c.71-4187_71-4186delinsTG	ENSP00000501021.1:n.71-4187_71-4186delins...
ENST00000318023.11:c.802-26_802-25delinsTG	ENSP00000326281.8:n.802-26_802-25delinsTG...
ENST00000349748.7:c.802-26_802-25delinsTG	ENSP00000183936.4:n.802-26_802-25delinsTG...
ENST00000357568.7:c.946-26_946-25delinsTG	ENSP00000350181.3:n.946-26_946-25delinsTG...
ENST00000397163.7:c.946-26_946-25delinsTG	ENSP00000380349.3:n.946-26_946-25delinsTG...
NM_000070.2:c.946-26_946-25delinsTG	NP_000061.1:n.946-26_946-25delinsTG
NM_024344.1:c.946-26_946-25delinsTG	NP_077320.1:n.946-26_946-25delinsTG
NM_173087.1:c.802-26_802-25delinsTG	NP_775110.1:n.802-26_802-25delinsTG
NM_000070.3:c.946-26_946-25delinsTG MANE Select	NP_000061.1:n.946-26_946-25delinsTG
NM_024344.2:c.946-26_946-25delinsTG	NP_077320.1:n.946-26_946-25delinsTG
NM_173087.2:c.802-26_802-25delinsTG	NP_775110.1:n.802-26_802-25delinsTG