Canonical Allele Identifier: CA269852837

Gene: CAPN3

Linked Data

• dbSNP Id: rs34757812
• MyVariant Identifiers: chr15:g.42702214_42702215insA (hg19) ; chr15:g.42410016_42410017insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42410016_42410017insA , CM000677.2:g.42410016_42410017insA	GRCh38
NC_000015.9:g.42702214_42702215insA , CM000677.1:g.42702214_42702215insA	GRCh37
NC_000015.8:g.40489506_40489507insA	NCBI36
NG_008660.1:g.66914_66915insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.120+21_120+22insA	ENSP00000336840.4:n.120+21_120+22insA
ENST00000349748.8:c.1839+21_1839+22insA	ENSP00000183936.4:n.1839+21_1839+22insA
ENST00000357568.8:c.2097+21_2097+22insA	ENSP00000350181.3:n.2097+21_2097+22insA
ENST00000397163.8:c.2115+21_2115+22insA MANE Select	ENSP00000380349.3:n.2115+21_2115+22insA
ENST00000397204.9:c.120+21_120+22insA	ENSP00000380387.4:n.120+21_120+22insA
ENST00000466222.7:n.380+21_380+22insA
ENST00000466369.5:n.2606+21_2606+22insA
ENST00000495723.1:n.2986+21_2986+22insA
ENST00000549793.5:n.2328+21_2328+22insA
ENST00000562199.2:c.123+21_123+22insA	ENSP00000501034.1:n.123+21_123+22insA
ENST00000569136.6:c.120+21_120+22insA	ENSP00000455254.1:n.120+21_120+22insA
ENST00000638141.2:n.1854+21_1854+22insA
ENST00000673646.1:c.679+21_679+22insA	ENSP00000501007.1:n.679+21_679+22insA
ENST00000673687.1:n.213_214insA
ENST00000673692.1:c.120+21_120+22insA	ENSP00000501138.1:n.120+21_120+22insA
ENST00000673705.1:c.510+21_510+22insA	ENSP00000501021.1:n.510+21_510+22insA
ENST00000673743.1:c.18+21_18+22insA	ENSP00000500989.1:n.18+21_18+22insA
ENST00000673750.1:c.120+21_120+22insA	ENSP00000501173.1:n.120+21_120+22insA
ENST00000673771.1:c.120+21_120+22insA	ENSP00000501023.1:n.120+21_120+22insA
ENST00000673774.1:n.837_838insA
ENST00000673839.1:c.120+21_120+22insA	ENSP00000501188.1:n.120+21_120+22insA
ENST00000673851.1:c.120+21_120+22insA	ENSP00000501142.1:n.120+21_120+22insA
ENST00000673854.1:n.5537+21_5537+22insA
ENST00000673886.1:c.120+21_120+22insA	ENSP00000501155.1:n.120+21_120+22insA
ENST00000673890.1:c.120+21_120+22insA	ENSP00000501293.1:n.120+21_120+22insA
ENST00000673893.1:c.60_61insA	ENSP00000500987.1:p.Pro21ThrfsTer?
ENST00000673928.1:c.120+21_120+22insA	ENSP00000501099.1:n.120+21_120+22insA
ENST00000673936.1:c.120+21_120+22insA	ENSP00000501189.1:n.120+21_120+22insA
ENST00000673939.1:c.120+21_120+22insA	ENSP00000501129.1:n.120+21_120+22insA
ENST00000673950.1:n.389+21_389+22insA
ENST00000673978.1:c.258+21_258+22insA	ENSP00000500976.1:n.258+21_258+22insA
ENST00000673987.1:c.120+21_120+22insA	ENSP00000501231.1:n.120+21_120+22insA
ENST00000674011.1:c.120+21_120+22insA	ENSP00000501171.1:n.120+21_120+22insA
ENST00000674018.1:c.120+21_120+22insA	ENSP00000501271.1:n.120+21_120+22insA
ENST00000674027.1:n.175+21_175+22insA
ENST00000674041.1:c.120+21_120+22insA	ENSP00000500956.1:n.120+21_120+22insA
ENST00000674052.1:c.339+21_339+22insA	ENSP00000501057.1:n.339+21_339+22insA
ENST00000674093.1:c.120+21_120+22insA	ENSP00000501303.1:n.120+21_120+22insA
ENST00000674119.1:c.120+21_120+22insA	ENSP00000501217.1:n.120+21_120+22insA
ENST00000674130.1:n.354_355insA
ENST00000674135.1:c.297+21_297+22insA	ENSP00000501178.1:n.297+21_297+22insA
ENST00000674139.1:c.120+21_120+22insA	ENSP00000501054.1:n.120+21_120+22insA
ENST00000674146.1:c.120+21_120+22insA	ENSP00000501175.1:n.120+21_120+22insA
ENST00000674149.1:c.120+21_120+22insA	ENSP00000501112.1:n.120+21_120+22insA
ENST00000318023.11:c.1971+21_1971+22insA	ENSP00000326281.8:n.1971+21_1971+22insA
ENST00000337571.8:c.120+21_120+22insA	ENSP00000336840.4:n.120+21_120+22insA
ENST00000349748.7:c.1839+21_1839+22insA	ENSP00000183936.4:n.1839+21_1839+22insA
ENST00000356316.7:c.120+21_120+22insA	ENSP00000348667.4:n.120+21_120+22insA
ENST00000357568.7:c.2097+21_2097+22insA	ENSP00000350181.3:n.2097+21_2097+22insA
ENST00000397163.7:c.2115+21_2115+22insA	ENSP00000380349.3:n.2115+21_2115+22insA
ENST00000397200.8:c.579+21_579+22insA	ENSP00000380384.4:n.579+21_579+22insA
ENST00000397204.8:c.120+21_120+22insA	ENSP00000380387.4:n.120+21_120+22insA
ENST00000466222.6:n.1038+21_1038+22insA
ENST00000561817.5:c.120+21_120+22insA	ENSP00000456575.1:n.120+21_120+22insA
ENST00000562199.1:n.123+21_123+22insA
ENST00000564503.5:c.212+21_212+22insA
ENST00000565274.5:c.327+21_327+22insA	ENSP00000457759.1:n.327+21_327+22insA
ENST00000565559.5:c.297+21_297+22insA	ENSP00000457878.1:n.297+21_297+22insA
ENST00000569136.5:c.120+21_120+22insA	ENSP00000455254.1:n.120+21_120+22insA
ENST00000569827.5:c.447+21_447+22insA	ENSP00000454379.1:n.447+21_447+22insA
NM_000070.2:c.2115+21_2115+22insA	NP_000061.1:n.2115+21_2115+22insA
NM_024344.1:c.2097+21_2097+22insA	NP_077320.1:n.2097+21_2097+22insA
NM_173087.1:c.1839+21_1839+22insA	NP_775110.1:n.1839+21_1839+22insA
NM_173088.1:c.579+21_579+22insA	NP_775111.1:n.579+21_579+22insA
NM_173089.1:c.120+21_120+22insA	NP_775112.1:n.120+21_120+22insA
NM_173090.1:c.120+21_120+22insA	NP_775113.1:n.120+21_120+22insA
NM_000070.3:c.2115+21_2115+22insA MANE Select	NP_000061.1:n.2115+21_2115+22insA
NM_024344.2:c.2097+21_2097+22insA	NP_077320.1:n.2097+21_2097+22insA
NM_173087.2:c.1839+21_1839+22insA	NP_775110.1:n.1839+21_1839+22insA
NM_173088.2:c.579+21_579+22insA	NP_775111.1:n.579+21_579+22insA
NM_173089.2:c.120+21_120+22insA	NP_775112.1:n.120+21_120+22insA
NM_173090.2:c.120+21_120+22insA	NP_775113.1:n.120+21_120+22insA