Canonical Allele Identifier: CA2172710390

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389159_42389172delinsTGAAGGGCAGCATA , CM000677.2:g.42389159_42389172delinsTGAAGGGCAGCATA	GRCh38
NC_000015.9:g.42681357_42681370delinsTGAAGGGCAGCATA , CM000677.1:g.42681357_42681370delinsTGAAGGGCAGCATA	GRCh37
NC_000015.8:g.40468649_40468662delinsTGAAGGGCAGCATA	NCBI36
NG_008660.1:g.46057_46070delinsTGAAGGGCAGCATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.801+63_801+76delinsTGAAGGGCAGCATA	ENSP00000183936.4:n.801+63_801+76delinsTGAAGGGCAGCATA
ENST00000357568.8:c.801+63_801+76delinsTGAAGGGCAGCATA	ENSP00000350181.3:n.801+63_801+76delinsTGAAGGGCAGCATA
ENST00000397163.8:c.801+63_801+76delinsTGAAGGGCAGCATA MANE Select	ENSP00000380349.3:n.801+63_801+76delinsTGAAGGGCAGCATA
ENST00000466369.5:n.1310+63_1310+76delinsTGAAGGGCAGCATA
ENST00000483208.5:n.1032+63_1032+76delinsTGAAGGGCAGCATA
ENST00000495723.1:n.1032+63_1032+76delinsTGAAGGGCAGCATA
ENST00000549793.5:n.1032+63_1032+76delinsTGAAGGGCAGCATA
ENST00000638141.2:n.816+63_816+76delinsTGAAGGGCAGCATA
ENST00000673705.1:c.70+4607_70+4620delinsTGAAGGGCAGCATA	ENSP00000501021.1:n.70+4607_70+4620delinsTGAAGGGCAGCATA
ENST00000318023.11:c.801+63_801+76delinsTGAAGGGCAGCATA	ENSP00000326281.8:n.801+63_801+76delinsTGAAGGGCAGCATA
ENST00000349748.7:c.801+63_801+76delinsTGAAGGGCAGCATA	ENSP00000183936.4:n.801+63_801+76delinsTGAAGGGCAGCATA
ENST00000357568.7:c.801+63_801+76delinsTGAAGGGCAGCATA	ENSP00000350181.3:n.801+63_801+76delinsTGAAGGGCAGCATA
ENST00000397163.7:c.801+63_801+76delinsTGAAGGGCAGCATA	ENSP00000380349.3:n.801+63_801+76delinsTGAAGGGCAGCATA
NM_000070.2:c.801+63_801+76delinsTGAAGGGCAGCATA	NP_000061.1:n.801+63_801+76delinsTGAAGGGCAGCATA
NM_024344.1:c.801+63_801+76delinsTGAAGGGCAGCATA	NP_077320.1:n.801+63_801+76delinsTGAAGGGCAGCATA
NM_173087.1:c.801+63_801+76delinsTGAAGGGCAGCATA	NP_775110.1:n.801+63_801+76delinsTGAAGGGCAGCATA
NM_000070.3:c.801+63_801+76delinsTGAAGGGCAGCATA MANE Select	NP_000061.1:n.801+63_801+76delinsTGAAGGGCAGCATA
NM_024344.2:c.801+63_801+76delinsTGAAGGGCAGCATA	NP_077320.1:n.801+63_801+76delinsTGAAGGGCAGCATA
NM_173087.2:c.801+63_801+76delinsTGAAGGGCAGCATA	NP_775110.1:n.801+63_801+76delinsTGAAGGGCAGCATA