Canonical Allele Identifier: CA658824216

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 560538
• ClinVar RCV Id: RCV000678675
• MyVariant Identifiers: chr15:g.42702644_42704190del (hg19) ; chr15:g.42410446_42411992del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42410446_42411992del , CM000677.2:g.42410446_42411992del	GRCh38
NC_000015.9:g.42702644_42704190del , CM000677.1:g.42702644_42704190del	GRCh37
NC_000015.8:g.40489936_40491482del	NCBI36
NG_008660.1:g.67344_68890del

Transcript Alleles

HGVS	Amino-acid change
ENST00000337571.9:c.139_*219del
ENST00000349748.8:c.1858_*219del
ENST00000357568.8:c.2116_*219del
ENST00000397163.8:c.2134_*219del
ENST00000397204.9:c.139_*219del
ENST00000466222.7:n.399_1056del
ENST00000466369.5:n.2625_3176del
ENST00000495723.1:n.3005_3556del
ENST00000549793.5:n.2347_2898del
ENST00000569136.6:c.139_*219del
ENST00000638141.2:n.1873_2424del
ENST00000673692.1:c.139_*219del
ENST00000673705.1:c.511-142_1915del
ENST00000673743.1:c.37_*219del
ENST00000673750.1:c.139_445-94del
ENST00000673771.1:c.139_*219del
ENST00000673851.1:c.139_*219del
ENST00000673854.1:n.5556_6107del
ENST00000673886.1:c.139_*219del
ENST00000673890.1:c.139_*219del
ENST00000673928.1:c.139_*219del
ENST00000673936.1:c.139_*219del
ENST00000673939.1:c.139_*405del
ENST00000673950.1:n.408_714-94del
ENST00000673978.1:c.277_*219del
ENST00000673987.1:c.139_*405del
ENST00000674011.1:c.139_*479del
ENST00000674018.1:c.139_*219del
ENST00000674027.1:n.194_591-94del
ENST00000674052.1:c.358_*219del
ENST00000674093.1:c.139_*219del
ENST00000674119.1:c.139_*219del
ENST00000674139.1:c.139_*219del
ENST00000674146.1:c.139_*219del
ENST00000674149.1:c.139_*219del
ENST00000318023.11:c.1990_*219del
ENST00000337571.8:c.139_*219del
ENST00000349748.7:c.1858_*219del
ENST00000356316.7:c.139_*219del
ENST00000397163.7:c.2134_*219del
ENST00000397200.8:c.598_*219del
ENST00000397204.8:c.139_*219del
ENST00000466222.6:n.1057_1608del
ENST00000561817.5:c.139_445-94del
NM_000070.2:c.2134_*219del
NM_024344.1:c.2116_*219del
NM_173087.1:c.1858_*219del
NM_173088.1:c.598_*219del
NM_173089.1:c.139_*219del
NM_173090.1:c.139_*219del
NM_000070.3:c.2134_*219del
NM_024344.2:c.2116_*219del
NM_173087.2:c.1858_*219del
NM_173088.2:c.598_*219del
NM_173089.2:c.139_*219del
NM_173090.2:c.139_*219del