Canonical Allele Identifier: CA2172712702

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42394085_42394086delinsCA , CM000677.2:g.42394085_42394086delinsCA	GRCh38
NC_000015.9:g.42686283_42686284delinsCA , CM000677.1:g.42686283_42686284delinsCA	GRCh37
NC_000015.8:g.40473575_40473576delinsCA	NCBI36
NG_008660.1:g.50983_50984delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.886-171_886-170delinsCA	ENSP00000183936.4:n.886-171_886-170delinsCA
ENST00000357568.8:c.1030-171_1030-170delinsCA	ENSP00000350181.3:n.1030-171_1030-170delinsCA
ENST00000397163.8:c.1030-171_1030-170delinsCA MANE Select	ENSP00000380349.3:n.1030-171_1030-170delinsCA
ENST00000466369.5:n.1539-171_1539-170delinsCA
ENST00000483208.5:n.1261-171_1261-170delinsCA
ENST00000495723.1:n.1261-171_1261-170delinsCA
ENST00000549793.5:n.1261-171_1261-170delinsCA
ENST00000638141.2:n.901-171_901-170delinsCA
ENST00000673658.1:n.14-171_14-170delinsCA
ENST00000673705.1:c.71-2715_71-2714delinsCA	ENSP00000501021.1:n.71-2715_71-2714delinsCA
ENST00000318023.11:c.886-171_886-170delinsCA	ENSP00000326281.8:n.886-171_886-170delinsCA
ENST00000349748.7:c.886-171_886-170delinsCA	ENSP00000183936.4:n.886-171_886-170delinsCA
ENST00000357568.7:c.1030-171_1030-170delinsCA	ENSP00000350181.3:n.1030-171_1030-170delinsCA
ENST00000397163.7:c.1030-171_1030-170delinsCA	ENSP00000380349.3:n.1030-171_1030-170delinsCA
NM_000070.2:c.1030-171_1030-170delinsCA	NP_000061.1:n.1030-171_1030-170delinsCA
NM_024344.1:c.1030-171_1030-170delinsCA	NP_077320.1:n.1030-171_1030-170delinsCA
NM_173087.1:c.886-171_886-170delinsCA	NP_775110.1:n.886-171_886-170delinsCA
NM_000070.3:c.1030-171_1030-170delinsCA MANE Select	NP_000061.1:n.1030-171_1030-170delinsCA
NM_024344.2:c.1030-171_1030-170delinsCA	NP_077320.1:n.1030-171_1030-170delinsCA
NM_173087.2:c.886-171_886-170delinsCA	NP_775110.1:n.886-171_886-170delinsCA