Canonical Allele Identifier: CA2614284901

Gene: CAPN1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65183610del , CM000673.2:g.65183610del	GRCh38
NC_000011.9:g.64951081del , CM000673.1:g.64951081del	GRCh37
NC_000011.8:g.64707657del	NCBI36
NG_052817.1:g.7396del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279247.11:c.456+18del MANE Select	ENSP00000279247.7:n.456+18del
ENST00000279247.10:c.456+18del	ENSP00000279247.6:n.456+18del
ENST00000524773.5:c.456+18del	ENSP00000434176.1:n.456+18del
ENST00000526468.1:c.141+18del	ENSP00000433366.1:n.141+18del
ENST00000526954.5:c.456+18del	ENSP00000436002.1:n.456+18del
ENST00000526966.5:c.456+18del	ENSP00000431528.1:n.456+18del
ENST00000527189.5:n.470+18del
ENST00000527323.5:c.456+18del	ENSP00000431984.1:n.456+18del
ENST00000527469.1:n.537+18del
ENST00000527739.5:c.456+18del	ENSP00000433823.1:n.456+18del
ENST00000528396.5:c.456+18del	ENSP00000435847.1:n.456+18del
ENST00000529133.5:c.456+18del	ENSP00000432512.1:n.456+18del
ENST00000530442.5:n.519del
ENST00000533129.5:c.456+18del	ENSP00000431686.1:n.456+18del
ENST00000533820.5:c.456+18del	ENSP00000435272.1:n.456+18del
NM_001198868.1:c.456+18del	NP_001185797.1:n.456+18del
NM_001198869.1:c.456+18del	NP_001185798.1:n.456+18del
NM_005186.3:c.456+18del	NP_005177.2:n.456+18del
NR_040008.1:n.568+18del
XM_006718698.1:c.456+18del	XP_006718761.1:n.456+18del
XM_011545292.1:c.456+18del	XP_011543594.1:n.456+18del
XM_006718698.2:c.456+18del	XP_006718761.1:n.456+18del
NM_001198868.2:c.456+18del	NP_001185797.1:n.456+18del
NM_005186.4:c.456+18del MANE Select	NP_005177.2:n.456+18del
NR_040008.2:n.473+18del
NM_001198869.2:c.456+18del	NP_001185798.1:n.456+18del