Canonical Allele Identifier: CA269840716

Gene: CAPN3

Linked Data

• dbSNP Id: rs376034486
• gnomAD v2: 15-42686375-C-CGTCCCAGCCCT
• gnomAD v3: 15-42394177-C-CGTCCCAGCCCT
• gnomAD v4: 15-42394177-C-CGTCCCAGCCCT
• MyVariant Identifiers: chr15:g.42686375_42686376insGTCCCAGCCCT (hg19) ; chr15:g.42394177_42394178insGTCCCAGCCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42394178_42394188dup , CM000677.2:g.42394178_42394188dup	GRCh38
NC_000015.9:g.42686376_42686386dup , CM000677.1:g.42686376_42686386dup	GRCh37
NC_000015.8:g.40473668_40473678dup	NCBI36
NG_008660.1:g.51076_51086dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.886-78_886-68dup	ENSP00000183936.4:n.886-78_886-68dup
ENST00000357568.8:c.1030-78_1030-68dup	ENSP00000350181.3:n.1030-78_1030-68dup
ENST00000397163.8:c.1030-78_1030-68dup MANE Select	ENSP00000380349.3:n.1030-78_1030-68dup
ENST00000466369.5:n.1539-78_1539-68dup
ENST00000483208.5:n.1261-78_1261-68dup
ENST00000495723.1:n.1261-78_1261-68dup
ENST00000549793.5:n.1261-78_1261-68dup
ENST00000638141.2:n.901-78_901-68dup
ENST00000673658.1:n.14-78_14-68dup
ENST00000673705.1:c.71-2622_71-2612dup	ENSP00000501021.1:n.71-2622_71-2612dup
ENST00000318023.11:c.886-78_886-68dup	ENSP00000326281.8:n.886-78_886-68dup
ENST00000349748.7:c.886-78_886-68dup	ENSP00000183936.4:n.886-78_886-68dup
ENST00000357568.7:c.1030-78_1030-68dup	ENSP00000350181.3:n.1030-78_1030-68dup
ENST00000397163.7:c.1030-78_1030-68dup	ENSP00000380349.3:n.1030-78_1030-68dup
NM_000070.2:c.1030-78_1030-68dup	NP_000061.1:n.1030-78_1030-68dup
NM_024344.1:c.1030-78_1030-68dup	NP_077320.1:n.1030-78_1030-68dup
NM_173087.1:c.886-78_886-68dup	NP_775110.1:n.886-78_886-68dup
NM_000070.3:c.1030-78_1030-68dup MANE Select	NP_000061.1:n.1030-78_1030-68dup
NM_024344.2:c.1030-78_1030-68dup	NP_077320.1:n.1030-78_1030-68dup
NM_173087.2:c.886-78_886-68dup	NP_775110.1:n.886-78_886-68dup