Canonical Allele Identifier: CA7510860

Gene: CAPN3

Linked Data

• dbSNP Id: rs753261440
• ExAC: 15:42652137 CCAT / C
• gnomAD v2: 15-42652137-CCAT-C
• gnomAD v4: 15-42359939-CCAT-C
• MyVariant Identifiers: chr15:g.42652138_42652140del (hg19) ; chr15:g.42359940_42359942del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42359945_42359947del , CM000677.2:g.42359945_42359947del	GRCh38
NC_000015.9:g.42652143_42652145del , CM000677.1:g.42652143_42652145del	GRCh37
NC_000015.8:g.40439435_40439437del	NCBI36
NG_008660.1:g.16843_16845del

Transcript Alleles

HGVS	Amino-acid change
ENST00000349748.8:c.140_142del	ENSP00000183936.4:p.Ile47del
ENST00000357568.8:c.140_142del	ENSP00000350181.3:p.Ile47del
ENST00000397163.8:c.140_142del MANE Select	ENSP00000380349.3:p.Ile47del
ENST00000466369.5:n.540+5492_540+5494del
ENST00000483208.5:n.540+5492_540+5494del
ENST00000495723.1:n.540+5492_540+5494del
ENST00000549793.5:n.540+5492_540+5494del
ENST00000318023.11:c.140_142del	ENSP00000326281.8:p.Ile47del
ENST00000349748.7:c.140_142del	ENSP00000183936.4:p.Ile47del
ENST00000357568.7:c.140_142del	ENSP00000350181.3:p.Ile47del
ENST00000397163.7:c.140_142del	ENSP00000380349.3:p.Ile47del
NM_000070.2:c.140_142del	NP_000061.1:p.Ile47del
NM_024344.1:c.140_142del	NP_077320.1:p.Ile47del
NM_173087.1:c.140_142del	NP_775110.1:p.Ile47del
NM_000070.3:c.140_142del MANE Select	NP_000061.1:p.Ile47del
NM_024344.2:c.140_142del	NP_077320.1:p.Ile47del
NM_173087.2:c.140_142del	NP_775110.1:p.Ile47del