Canonical Allele Identifier: CA7511198
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 497002
ClinVar RCV Id: RCV000592803 RCV000725572
dbSNP Id: rs766156798
ExAC: 15:42684832 TACAG / T
gnomAD v2: 15-42684832-TACAG-T
gnomAD v4: 15-42392634-TACAG-T
MyVariant Identifiers: chr15:g.42684836_42684839del (hg19) chr15:g.42684833_42684836del (hg19) chr15:g.42392638_42392641del (hg38) chr15:g.42392635_42392638del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42392638_42392641del , CM000677.2:g.42392638_42392641del GRCh38
NC_000015.9:g.42684836_42684839del , CM000677.1:g.42684836_42684839del GRCh37
NC_000015.8:g.40472128_40472131del NCBI36
NG_008660.1:g.49536_49539del

Transcript Alleles

HGVS Amino-acid change
ENST00000349748.8:c.802-1_804del
ENST00000357568.8:c.946-1_948del
ENST00000397163.8:c.946-1_948del
ENST00000466369.5:n.1455-1_1457del
ENST00000483208.5:n.1177-1_1179del
ENST00000495723.1:n.1177-1_1179del
ENST00000549793.5:n.1177-1_1179del
ENST00000638141.2:n.817-1_819del
ENST00000673705.1:c.71-4162_71-4159del ENSP00000501021.1:n.71-4162_71-4159del
ENST00000318023.11:c.802-1_804del
ENST00000349748.7:c.802-1_804del
ENST00000357568.7:c.946-1_948del
ENST00000397163.7:c.946-1_948del
NM_000070.2:c.946-1_948del
NM_024344.1:c.946-1_948del
NM_173087.1:c.802-1_804del
NM_000070.3:c.946-1_948del
NM_024344.2:c.946-1_948del
NM_173087.2:c.802-1_804del
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