Canonical Allele Identifier: CA2575695481
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42394224_42394227dup , CM000677.2:g.42394224_42394227dup GRCh38
NC_000015.9:g.42686422_42686425dup , CM000677.1:g.42686422_42686425dup GRCh37
NC_000015.8:g.40473714_40473717dup NCBI36
NG_008660.1:g.51122_51125dup

Transcript Alleles

HGVS Amino-acid change
ENST00000349748.8:c.886-32_886-29dup ENSP00000183936.4:n.886-32_886-29dup
ENST00000357568.8:c.1030-32_1030-29dup ENSP00000350181.3:n.1030-32_1030-29dup
ENST00000397163.8:c.1030-32_1030-29dup MANE Select ENSP00000380349.3:n.1030-32_1030-29dup
ENST00000466369.5:n.1539-32_1539-29dup
ENST00000483208.5:n.1261-32_1261-29dup
ENST00000495723.1:n.1261-32_1261-29dup
ENST00000549793.5:n.1261-32_1261-29dup
ENST00000638141.2:n.901-32_901-29dup
ENST00000673658.1:n.14-32_14-29dup
ENST00000673705.1:c.71-2576_71-2573dup ENSP00000501021.1:n.71-2576_71-2573dup
ENST00000318023.11:c.886-32_886-29dup ENSP00000326281.8:n.886-32_886-29dup
ENST00000349748.7:c.886-32_886-29dup ENSP00000183936.4:n.886-32_886-29dup
ENST00000357568.7:c.1030-32_1030-29dup ENSP00000350181.3:n.1030-32_1030-29dup
ENST00000397163.7:c.1030-32_1030-29dup ENSP00000380349.3:n.1030-32_1030-29dup
NM_000070.2:c.1030-32_1030-29dup NP_000061.1:n.1030-32_1030-29dup
NM_024344.1:c.1030-32_1030-29dup NP_077320.1:n.1030-32_1030-29dup
NM_173087.1:c.886-32_886-29dup NP_775110.1:n.886-32_886-29dup
NM_000070.3:c.1030-32_1030-29dup MANE Select NP_000061.1:n.1030-32_1030-29dup
NM_024344.2:c.1030-32_1030-29dup NP_077320.1:n.1030-32_1030-29dup
NM_173087.2:c.886-32_886-29dup NP_775110.1:n.886-32_886-29dup