Canonical Allele Identifier: CA2575695396

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389080_42389100del , CM000677.2:g.42389080_42389100del	GRCh38
NC_000015.9:g.42681278_42681298del , CM000677.1:g.42681278_42681298del	GRCh37
NC_000015.8:g.40468570_40468590del	NCBI36
NG_008660.1:g.45978_45998del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.785_801+4del
ENST00000357568.8:c.785_801+4del
ENST00000397163.8:c.785_801+4del
ENST00000466369.5:n.1294_1310+4del
ENST00000483208.5:n.1016_1032+4del
ENST00000495723.1:n.1016_1032+4del
ENST00000549793.5:n.1016_1032+4del
ENST00000638141.2:n.800_816+4del
ENST00000673705.1:c.70+4528_70+4548del	ENSP00000501021.1:n.70+4528_70+4548del
ENST00000318023.11:c.785_801+4del
ENST00000349748.7:c.785_801+4del
ENST00000357568.7:c.785_801+4del
ENST00000397163.7:c.785_801+4del
NM_000070.2:c.785_801+4del
NM_024344.1:c.785_801+4del
NM_173087.1:c.785_801+4del
NM_000070.3:c.785_801+4del
NM_024344.2:c.785_801+4del
NM_173087.2:c.785_801+4del