Canonical Allele Identifier: CA1241849372

Gene: CAPN13

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.30806908_30806910delinsAAC , CM000664.2:g.30806908_30806910delinsAAC	GRCh38
NC_000002.11:g.31029774_31029776delinsAAC , CM000664.1:g.31029774_31029776delinsAAC	GRCh37
NC_000002.10:g.30883278_30883280delinsAAC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295055.12:c.-33+392_-33+394delinsGTT MANE Select	ENSP00000295055.8:n.-33+392_-33+394delinsGTT
ENST00000458085.6:c.-119+392_-119+394delinsGTT	ENSP00000416191.2:n.-119+392_-119+394delinsGTT
ENST00000465960.2:n.317+392_317+394delinsGTT
ENST00000485248.2:c.-119+392_-119+394delinsGTT	ENSP00000440723.1:n.-119+392_-119+394delinsGTT
NM_144575.2:c.-33+392_-33+394delinsGTT	NP_653176.2:n.-33+392_-33+394delinsGTT
XM_011533159.1:c.-33+392_-33+394delinsGTT	XP_011531461.1:n.-33+392_-33+394delinsGTT
XM_011533160.1:c.-119+392_-119+394delinsGTT	XP_011531462.1:n.-119+392_-119+394delinsGTT
XM_011533161.1:c.-33+392_-33+394delinsGTT	XP_011531463.1:n.-33+392_-33+394delinsGTT
XM_011533162.1:c.-33+392_-33+394delinsGTT	XP_011531464.1:n.-33+392_-33+394delinsGTT
XM_011533163.1:c.-33+392_-33+394delinsGTT	XP_011531465.1:n.-33+392_-33+394delinsGTT
XR_939741.1:n.145+392_145+394delinsGTT
XR_939742.1:n.145+392_145+394delinsGTT
XR_939743.1:n.145+392_145+394delinsGTT
XM_011533159.3:c.-33+392_-33+394delinsGTT	XP_011531461.1:n.-33+392_-33+394delinsGTT
XM_011533160.2:c.-119+392_-119+394delinsGTT	XP_011531462.1:n.-119+392_-119+394delinsGTT
XM_011533161.3:c.-33+392_-33+394delinsGTT	XP_011531463.1:n.-33+392_-33+394delinsGTT
XM_011533163.3:c.-33+392_-33+394delinsGTT	XP_011531465.1:n.-33+392_-33+394delinsGTT
XM_017005264.1:c.-119+392_-119+394delinsGTT	XP_016860753.1:n.-119+392_-119+394delinsGTT
XM_017005266.2:c.-33+392_-33+394delinsGTT	XP_016860755.1:n.-33+392_-33+394delinsGTT
XR_001739074.1:n.330+392_330+394delinsGTT
XR_939741.3:n.145+392_145+394delinsGTT
XR_939742.3:n.145+392_145+394delinsGTT
XR_939743.3:n.145+392_145+394delinsGTT
NM_144575.3:c.-33+392_-33+394delinsGTT MANE Select	NP_653176.2:n.-33+392_-33+394delinsGTT