Canonical Allele Identifier: CA7511417

Gene: CAPN3

Linked Data

• dbSNP Id: rs761326661
• ExAC: 15:42694955 AG / A
• gnomAD v2: 15-42694955-AG-A
• gnomAD v4: 15-42402757-AG-A
• MyVariant Identifiers: chr15:g.42694956del (hg19) ; chr15:g.42402758del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402761del , CM000677.2:g.42402761del	GRCh38
NC_000015.9:g.42694959del , CM000677.1:g.42694959del	GRCh37
NC_000015.8:g.40482251del	NCBI36
NG_008660.1:g.59659del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1393-33del	ENSP00000183936.4:n.1393-33del
ENST00000357568.8:c.1537-33del	ENSP00000350181.3:n.1537-33del
ENST00000397163.8:c.1537-33del MANE Select	ENSP00000380349.3:n.1537-33del
ENST00000466369.5:n.2046-33del
ENST00000483208.5:n.2393del
ENST00000495723.1:n.2393del
ENST00000549793.5:n.1768-33del
ENST00000638141.2:n.1408-33del
ENST00000673705.1:c.309+3109del	ENSP00000501021.1:n.309+3109del
ENST00000673813.1:n.459-33del
ENST00000318023.11:c.1393-33del	ENSP00000326281.8:n.1393-33del
ENST00000349748.7:c.1393-33del	ENSP00000183936.4:n.1393-33del
ENST00000357568.7:c.1537-33del	ENSP00000350181.3:n.1537-33del
ENST00000397163.7:c.1537-33del	ENSP00000380349.3:n.1537-33del
ENST00000397200.8:c.1-33del	ENSP00000380384.4:n.1-33del
ENST00000569827.5:c.1-33del	ENSP00000454379.1:n.1-33del
NM_000070.2:c.1537-33del	NP_000061.1:n.1537-33del
NM_024344.1:c.1537-33del	NP_077320.1:n.1537-33del
NM_173087.1:c.1393-33del	NP_775110.1:n.1393-33del
NM_173088.1:c.1-33del	NP_775111.1:n.1-33del
NM_000070.3:c.1537-33del MANE Select	NP_000061.1:n.1537-33del
NM_024344.2:c.1537-33del	NP_077320.1:n.1537-33del
NM_173087.2:c.1393-33del	NP_775110.1:n.1393-33del
NM_173088.2:c.1-33del	NP_775111.1:n.1-33del