Canonical Allele Identifier: CA2628030406

Gene: CAPN3

Linked Data

• gnomAD v4: 15-42389197-ATGTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389203_42389207del , CM000677.2:g.42389203_42389207del	GRCh38
NC_000015.9:g.42681401_42681405del , CM000677.1:g.42681401_42681405del	GRCh37
NC_000015.8:g.40468693_40468697del	NCBI36
NG_008660.1:g.46101_46105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.801+107_801+111del	ENSP00000183936.4:n.801+107_801+111del
ENST00000357568.8:c.801+107_801+111del	ENSP00000350181.3:n.801+107_801+111del
ENST00000397163.8:c.801+107_801+111del MANE Select	ENSP00000380349.3:n.801+107_801+111del
ENST00000466369.5:n.1310+107_1310+111del
ENST00000483208.5:n.1032+107_1032+111del
ENST00000495723.1:n.1032+107_1032+111del
ENST00000549793.5:n.1032+107_1032+111del
ENST00000638141.2:n.816+107_816+111del
ENST00000673705.1:c.70+4651_70+4655del	ENSP00000501021.1:n.70+4651_70+4655del
ENST00000318023.11:c.801+107_801+111del	ENSP00000326281.8:n.801+107_801+111del
ENST00000349748.7:c.801+107_801+111del	ENSP00000183936.4:n.801+107_801+111del
ENST00000357568.7:c.801+107_801+111del	ENSP00000350181.3:n.801+107_801+111del
ENST00000397163.7:c.801+107_801+111del	ENSP00000380349.3:n.801+107_801+111del
NM_000070.2:c.801+107_801+111del	NP_000061.1:n.801+107_801+111del
NM_024344.1:c.801+107_801+111del	NP_077320.1:n.801+107_801+111del
NM_173087.1:c.801+107_801+111del	NP_775110.1:n.801+107_801+111del
NM_000070.3:c.801+107_801+111del MANE Select	NP_000061.1:n.801+107_801+111del
NM_024344.2:c.801+107_801+111del	NP_077320.1:n.801+107_801+111del
NM_173087.2:c.801+107_801+111del	NP_775110.1:n.801+107_801+111del