Canonical Allele Identifier: CA2730850675

Gene: CAPN3

Linked Data

• dbSNP Id: rs2141180423

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42394178_42394179del , CM000677.2:g.42394178_42394179del	GRCh38
NC_000015.9:g.42686376_42686377del , CM000677.1:g.42686376_42686377del	GRCh37
NC_000015.8:g.40473668_40473669del	NCBI36
NG_008660.1:g.51076_51077del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.886-78_886-77del	ENSP00000183936.4:n.886-78_886-77del
ENST00000357568.8:c.1030-78_1030-77del	ENSP00000350181.3:n.1030-78_1030-77del
ENST00000397163.8:c.1030-78_1030-77del MANE Select	ENSP00000380349.3:n.1030-78_1030-77del
ENST00000466369.5:n.1539-78_1539-77del
ENST00000483208.5:n.1261-78_1261-77del
ENST00000495723.1:n.1261-78_1261-77del
ENST00000549793.5:n.1261-78_1261-77del
ENST00000638141.2:n.901-78_901-77del
ENST00000673658.1:n.14-78_14-77del
ENST00000673705.1:c.71-2622_71-2621del	ENSP00000501021.1:n.71-2622_71-2621del
ENST00000318023.11:c.886-78_886-77del	ENSP00000326281.8:n.886-78_886-77del
ENST00000349748.7:c.886-78_886-77del	ENSP00000183936.4:n.886-78_886-77del
ENST00000357568.7:c.1030-78_1030-77del	ENSP00000350181.3:n.1030-78_1030-77del
ENST00000397163.7:c.1030-78_1030-77del	ENSP00000380349.3:n.1030-78_1030-77del
NM_000070.2:c.1030-78_1030-77del	NP_000061.1:n.1030-78_1030-77del
NM_024344.1:c.1030-78_1030-77del	NP_077320.1:n.1030-78_1030-77del
NM_173087.1:c.886-78_886-77del	NP_775110.1:n.886-78_886-77del
NM_000070.3:c.1030-78_1030-77del MANE Select	NP_000061.1:n.1030-78_1030-77del
NM_024344.2:c.1030-78_1030-77del	NP_077320.1:n.1030-78_1030-77del
NM_173087.2:c.886-78_886-77del	NP_775110.1:n.886-78_886-77del