Canonical Allele Identifier: CA617607481

Gene: CAPN3

Linked Data

• dbSNP Id: rs1343059091
• gnomAD v2: 15-42693668-A-AGT
• gnomAD v3: 15-42401470-A-AGT
• gnomAD v4: 15-42401470-A-AGT
• MyVariant Identifiers: chr15:g.42693668_42693669insGT (hg19) ; chr15:g.42401470_42401471insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401471_42401472insTG , CM000677.2:g.42401471_42401472insTG	GRCh38
NC_000015.9:g.42693669_42693670insTG , CM000677.1:g.42693669_42693670insTG	GRCh37
NC_000015.8:g.40480961_40480962insTG	NCBI36
NG_008660.1:g.58369_58370insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1211-170_1211-169insTG	ENSP00000183936.4:n.1211-170_1211-169insTG
ENST00000357568.8:c.1355-170_1355-169insTG	ENSP00000350181.3:n.1355-170_1355-169insTG
ENST00000397163.8:c.1355-170_1355-169insTG MANE Select	ENSP00000380349.3:n.1355-170_1355-169insTG
ENST00000466369.5:n.1864-170_1864-169insTG
ENST00000483208.5:n.1586-170_1586-169insTG
ENST00000495723.1:n.1586-170_1586-169insTG
ENST00000549793.5:n.1586-170_1586-169insTG
ENST00000638141.2:n.1226-170_1226-169insTG
ENST00000673705.1:c.309+1819_309+1820insTG	ENSP00000501021.1:n.309+1819_309+1820insTG
ENST00000318023.11:c.1211-170_1211-169insTG	ENSP00000326281.8:n.1211-170_1211-169insTG
ENST00000349748.7:c.1211-170_1211-169insTG	ENSP00000183936.4:n.1211-170_1211-169insTG
ENST00000357568.7:c.1355-170_1355-169insTG	ENSP00000350181.3:n.1355-170_1355-169insTG
ENST00000397163.7:c.1355-170_1355-169insTG	ENSP00000380349.3:n.1355-170_1355-169insTG
NM_000070.2:c.1355-170_1355-169insTG	NP_000061.1:n.1355-170_1355-169insTG
NM_024344.1:c.1355-170_1355-169insTG	NP_077320.1:n.1355-170_1355-169insTG
NM_173087.1:c.1211-170_1211-169insTG	NP_775110.1:n.1211-170_1211-169insTG
NM_000070.3:c.1355-170_1355-169insTG MANE Select	NP_000061.1:n.1355-170_1355-169insTG
NM_024344.2:c.1355-170_1355-169insTG	NP_077320.1:n.1355-170_1355-169insTG
NM_173087.2:c.1211-170_1211-169insTG	NP_775110.1:n.1211-170_1211-169insTG