Canonical Allele Identifier: CA617607494

Gene: CAPN3

Linked Data

• dbSNP Id: rs35924291
• gnomAD v2: 15-42693671-G-GCC
• gnomAD v3: 15-42401473-G-GCC
• gnomAD v4: 15-42401473-G-GCC
• MyVariant Identifiers: chr15:g.42693683_42693684insCC (hg19) ; chr15:g.42693674_42693675insCC (hg19) ; chr15:g.42693671_42693672insCC (hg19) ; chr15:g.42401485_42401486insCC (hg38) ; chr15:g.42401476_42401477insCC (hg38) ; chr15:g.42401473_42401474insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401486_42401487dup , CM000677.2:g.42401486_42401487dup	GRCh38
NC_000015.9:g.42693684_42693685dup , CM000677.1:g.42693684_42693685dup	GRCh37
NC_000015.8:g.40480976_40480977dup	NCBI36
NG_008660.1:g.58384_58385dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1211-155_1211-154dup	ENSP00000183936.4:n.1211-155_1211-154dup
ENST00000357568.8:c.1355-155_1355-154dup	ENSP00000350181.3:n.1355-155_1355-154dup
ENST00000397163.8:c.1355-155_1355-154dup MANE Select	ENSP00000380349.3:n.1355-155_1355-154dup
ENST00000466369.5:n.1864-155_1864-154dup
ENST00000483208.5:n.1586-155_1586-154dup
ENST00000495723.1:n.1586-155_1586-154dup
ENST00000549793.5:n.1586-155_1586-154dup
ENST00000638141.2:n.1226-155_1226-154dup
ENST00000673705.1:c.309+1834_309+1835dup	ENSP00000501021.1:n.309+1834_309+1835dup
ENST00000318023.11:c.1211-155_1211-154dup	ENSP00000326281.8:n.1211-155_1211-154dup
ENST00000349748.7:c.1211-155_1211-154dup	ENSP00000183936.4:n.1211-155_1211-154dup
ENST00000357568.7:c.1355-155_1355-154dup	ENSP00000350181.3:n.1355-155_1355-154dup
ENST00000397163.7:c.1355-155_1355-154dup	ENSP00000380349.3:n.1355-155_1355-154dup
NM_000070.2:c.1355-155_1355-154dup	NP_000061.1:n.1355-155_1355-154dup
NM_024344.1:c.1355-155_1355-154dup	NP_077320.1:n.1355-155_1355-154dup
NM_173087.1:c.1211-155_1211-154dup	NP_775110.1:n.1211-155_1211-154dup
NM_000070.3:c.1355-155_1355-154dup MANE Select	NP_000061.1:n.1355-155_1355-154dup
NM_024344.2:c.1355-155_1355-154dup	NP_077320.1:n.1355-155_1355-154dup
NM_173087.2:c.1211-155_1211-154dup	NP_775110.1:n.1211-155_1211-154dup