Canonical Allele Identifier: CA2172718613

Gene: CAPN3

Linked Data

• dbSNP Id: rs2053861850

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401478_42401479insAC , CM000677.2:g.42401478_42401479insAC	GRCh38
NC_000015.9:g.42693676_42693677insAC , CM000677.1:g.42693676_42693677insAC	GRCh37
NC_000015.8:g.40480968_40480969insAC	NCBI36
NG_008660.1:g.58376_58377insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1211-163_1211-162insAC	ENSP00000183936.4:n.1211-163_1211-162insAC
ENST00000357568.8:c.1355-163_1355-162insAC	ENSP00000350181.3:n.1355-163_1355-162insAC
ENST00000397163.8:c.1355-163_1355-162insAC MANE Select	ENSP00000380349.3:n.1355-163_1355-162insAC
ENST00000466369.5:n.1864-163_1864-162insAC
ENST00000483208.5:n.1586-163_1586-162insAC
ENST00000495723.1:n.1586-163_1586-162insAC
ENST00000549793.5:n.1586-163_1586-162insAC
ENST00000638141.2:n.1226-163_1226-162insAC
ENST00000673705.1:c.309+1826_309+1827insAC	ENSP00000501021.1:n.309+1826_309+1827insAC
ENST00000318023.11:c.1211-163_1211-162insAC	ENSP00000326281.8:n.1211-163_1211-162insAC
ENST00000349748.7:c.1211-163_1211-162insAC	ENSP00000183936.4:n.1211-163_1211-162insAC
ENST00000357568.7:c.1355-163_1355-162insAC	ENSP00000350181.3:n.1355-163_1355-162insAC
ENST00000397163.7:c.1355-163_1355-162insAC	ENSP00000380349.3:n.1355-163_1355-162insAC
NM_000070.2:c.1355-163_1355-162insAC	NP_000061.1:n.1355-163_1355-162insAC
NM_024344.1:c.1355-163_1355-162insAC	NP_077320.1:n.1355-163_1355-162insAC
NM_173087.1:c.1211-163_1211-162insAC	NP_775110.1:n.1211-163_1211-162insAC
NM_000070.3:c.1355-163_1355-162insAC MANE Select	NP_000061.1:n.1355-163_1355-162insAC
NM_024344.2:c.1355-163_1355-162insAC	NP_077320.1:n.1355-163_1355-162insAC
NM_173087.2:c.1211-163_1211-162insAC	NP_775110.1:n.1211-163_1211-162insAC