Canonical Allele Identifier: CA2580615726

Gene: CAPN1

Linked Data

• ClinVar Variation Id: 1938988
• ClinVar RCV Id: RCV002646623
• gnomAD v4: 11-65206769-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65206774_65206775del , CM000673.2:g.65206774_65206775del	GRCh38
NC_000011.9:g.64974245_64974246del , CM000673.1:g.64974245_64974246del	GRCh37
NC_000011.8:g.64730821_64730822del	NCBI36
NG_052817.1:g.30560_30561del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279247.11:c.1566-6_1566-5del MANE Select	ENSP00000279247.7:n.1566-6_1566-5del
ENST00000279247.10:c.1566-6_1566-5del	ENSP00000279247.6:n.1566-6_1566-5del
ENST00000524773.5:c.1566-6_1566-5del	ENSP00000434176.1:n.1566-6_1566-5del
ENST00000525013.1:n.419-6_419-5del
ENST00000527323.5:c.1566-6_1566-5del	ENSP00000431984.1:n.1566-6_1566-5del
ENST00000533129.5:c.1566-6_1566-5del	ENSP00000431686.1:n.1566-6_1566-5del
ENST00000533820.5:c.1566-6_1566-5del	ENSP00000435272.1:n.1566-6_1566-5del
NM_001198868.1:c.1566-6_1566-5del	NP_001185797.1:n.1566-6_1566-5del
NM_001198869.1:c.1566-6_1566-5del	NP_001185798.1:n.1566-6_1566-5del
NM_005186.3:c.1566-6_1566-5del	NP_005177.2:n.1566-6_1566-5del
NR_040008.1:n.1678-6_1678-5del
XM_006718698.1:c.1566-6_1566-5del	XP_006718761.1:n.1566-6_1566-5del
XM_011545292.1:c.1566-6_1566-5del	XP_011543594.1:n.1566-6_1566-5del
XM_006718698.2:c.1566-6_1566-5del	XP_006718761.1:n.1566-6_1566-5del
NM_001198868.2:c.1566-6_1566-5del	NP_001185797.1:n.1566-6_1566-5del
NM_005186.4:c.1566-6_1566-5del MANE Select	NP_005177.2:n.1566-6_1566-5del
NR_040008.2:n.1583-6_1583-5del
NM_001198869.2:c.1566-6_1566-5del	NP_001185798.1:n.1566-6_1566-5del