Canonical Allele Identifier: CA2172697436

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42360064_42360070delinsCTCTTTT , CM000677.2:g.42360064_42360070delinsCTCTTTT	GRCh38
NC_000015.9:g.42652262_42652268delinsCTCTTTT , CM000677.1:g.42652262_42652268delinsCTCTTTT	GRCh37
NC_000015.8:g.40439554_40439560delinsCTCTTTT	NCBI36
NG_008660.1:g.16962_16968delinsCTCTTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000349748.8:c.259_265delinsCTCTTTT	ENSP00000183936.4:p.Leu87=
ENST00000357568.8:c.259_265delinsCTCTTTT	ENSP00000350181.3:p.Leu87=
ENST00000397163.8:c.259_265delinsCTCTTTT MANE Select	ENSP00000380349.3:p.Leu87=
ENST00000466369.5:n.540+5611_540+5617delinsCTCTTTT
ENST00000483208.5:n.540+5611_540+5617delinsCTCTTTT
ENST00000495723.1:n.540+5611_540+5617delinsCTCTTTT
ENST00000549793.5:n.540+5611_540+5617delinsCTCTTTT
ENST00000318023.11:c.259_265delinsCTCTTTT	ENSP00000326281.8:p.Leu87=
ENST00000349748.7:c.259_265delinsCTCTTTT	ENSP00000183936.4:p.Leu87=
ENST00000357568.7:c.259_265delinsCTCTTTT	ENSP00000350181.3:p.Leu87=
ENST00000397163.7:c.259_265delinsCTCTTTT	ENSP00000380349.3:p.Leu87=
NM_000070.2:c.259_265delinsCTCTTTT	NP_000061.1:p.Leu87=
NM_024344.1:c.259_265delinsCTCTTTT	NP_077320.1:p.Leu87=
NM_173087.1:c.259_265delinsCTCTTTT	NP_775110.1:p.Leu87=
NM_000070.3:c.259_265delinsCTCTTTT MANE Select	NP_000061.1:p.Leu87=
NM_024344.2:c.259_265delinsCTCTTTT	NP_077320.1:p.Leu87=
NM_173087.2:c.259_265delinsCTCTTTT	NP_775110.1:p.Leu87=