Canonical Allele Identifier: CA2172712712

Gene: CAPN3

Linked Data

• dbSNP Id: rs2053627419

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42394091_42394092del , CM000677.2:g.42394091_42394092del	GRCh38
NC_000015.9:g.42686289_42686290del , CM000677.1:g.42686289_42686290del	GRCh37
NC_000015.8:g.40473581_40473582del	NCBI36
NG_008660.1:g.50989_50990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.886-165_886-164del	ENSP00000183936.4:n.886-165_886-164del
ENST00000357568.8:c.1030-165_1030-164del	ENSP00000350181.3:n.1030-165_1030-164del
ENST00000397163.8:c.1030-165_1030-164del MANE Select	ENSP00000380349.3:n.1030-165_1030-164del
ENST00000466369.5:n.1539-165_1539-164del
ENST00000483208.5:n.1261-165_1261-164del
ENST00000495723.1:n.1261-165_1261-164del
ENST00000549793.5:n.1261-165_1261-164del
ENST00000638141.2:n.901-165_901-164del
ENST00000673658.1:n.14-165_14-164del
ENST00000673705.1:c.71-2709_71-2708del	ENSP00000501021.1:n.71-2709_71-2708del
ENST00000318023.11:c.886-165_886-164del	ENSP00000326281.8:n.886-165_886-164del
ENST00000349748.7:c.886-165_886-164del	ENSP00000183936.4:n.886-165_886-164del
ENST00000357568.7:c.1030-165_1030-164del	ENSP00000350181.3:n.1030-165_1030-164del
ENST00000397163.7:c.1030-165_1030-164del	ENSP00000380349.3:n.1030-165_1030-164del
NM_000070.2:c.1030-165_1030-164del	NP_000061.1:n.1030-165_1030-164del
NM_024344.1:c.1030-165_1030-164del	NP_077320.1:n.1030-165_1030-164del
NM_173087.1:c.886-165_886-164del	NP_775110.1:n.886-165_886-164del
NM_000070.3:c.1030-165_1030-164del MANE Select	NP_000061.1:n.1030-165_1030-164del
NM_024344.2:c.1030-165_1030-164del	NP_077320.1:n.1030-165_1030-164del
NM_173087.2:c.886-165_886-164del	NP_775110.1:n.886-165_886-164del