Canonical Allele Identifier: CA969127304

Gene: CAPN3

Linked Data

• gnomAD v3: 15-42401487-C-CCCA
• gnomAD v4: 15-42401487-C-CCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401487_42401488insCCA , CM000677.2:g.42401487_42401488insCCA	GRCh38
NC_000015.9:g.42693685_42693686insCCA , CM000677.1:g.42693685_42693686insCCA	GRCh37
NC_000015.8:g.40480977_40480978insCCA	NCBI36
NG_008660.1:g.58385_58386insCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1211-154_1211-153insCCA	ENSP00000183936.4:n.1211-154_1211-153insCCA
ENST00000357568.8:c.1355-154_1355-153insCCA	ENSP00000350181.3:n.1355-154_1355-153insCCA
ENST00000397163.8:c.1355-154_1355-153insCCA MANE Select	ENSP00000380349.3:n.1355-154_1355-153insCCA
ENST00000466369.5:n.1864-154_1864-153insCCA
ENST00000483208.5:n.1586-154_1586-153insCCA
ENST00000495723.1:n.1586-154_1586-153insCCA
ENST00000549793.5:n.1586-154_1586-153insCCA
ENST00000638141.2:n.1226-154_1226-153insCCA
ENST00000673705.1:c.309+1835_309+1836insCCA	ENSP00000501021.1:n.309+1835_309+1836insCCA
ENST00000318023.11:c.1211-154_1211-153insCCA	ENSP00000326281.8:n.1211-154_1211-153insCCA
ENST00000349748.7:c.1211-154_1211-153insCCA	ENSP00000183936.4:n.1211-154_1211-153insCCA
ENST00000357568.7:c.1355-154_1355-153insCCA	ENSP00000350181.3:n.1355-154_1355-153insCCA
ENST00000397163.7:c.1355-154_1355-153insCCA	ENSP00000380349.3:n.1355-154_1355-153insCCA
NM_000070.2:c.1355-154_1355-153insCCA	NP_000061.1:n.1355-154_1355-153insCCA
NM_024344.1:c.1355-154_1355-153insCCA	NP_077320.1:n.1355-154_1355-153insCCA
NM_173087.1:c.1211-154_1211-153insCCA	NP_775110.1:n.1211-154_1211-153insCCA
NM_000070.3:c.1355-154_1355-153insCCA MANE Select	NP_000061.1:n.1355-154_1355-153insCCA
NM_024344.2:c.1355-154_1355-153insCCA	NP_077320.1:n.1355-154_1355-153insCCA
NM_173087.2:c.1211-154_1211-153insCCA	NP_775110.1:n.1211-154_1211-153insCCA