Canonical Allele Identifier: CA269840647

Gene: CAPN3

Linked Data

• dbSNP Id: rs574154224
• gnomAD v2: 15-42686227-TAGAG-T
• gnomAD v3: 15-42394029-TAGAG-T
• gnomAD v4: 15-42394029-TAGAG-T
• MyVariant Identifiers: chr15:g.42686228_42686231del (hg19) ; chr15:g.42394030_42394033del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42394032_42394035del , CM000677.2:g.42394032_42394035del	GRCh38
NC_000015.9:g.42686230_42686233del , CM000677.1:g.42686230_42686233del	GRCh37
NC_000015.8:g.40473522_40473525del	NCBI36
NG_008660.1:g.50930_50933del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.886-224_886-221del	ENSP00000183936.4:n.886-224_886-221del
ENST00000357568.8:c.1030-224_1030-221del	ENSP00000350181.3:n.1030-224_1030-221del
ENST00000397163.8:c.1030-224_1030-221del MANE Select	ENSP00000380349.3:n.1030-224_1030-221del
ENST00000466369.5:n.1539-224_1539-221del
ENST00000483208.5:n.1261-224_1261-221del
ENST00000495723.1:n.1261-224_1261-221del
ENST00000549793.5:n.1261-224_1261-221del
ENST00000638141.2:n.901-224_901-221del
ENST00000673658.1:n.14-224_14-221del
ENST00000673705.1:c.71-2768_71-2765del	ENSP00000501021.1:n.71-2768_71-2765del
ENST00000318023.11:c.886-224_886-221del	ENSP00000326281.8:n.886-224_886-221del
ENST00000349748.7:c.886-224_886-221del	ENSP00000183936.4:n.886-224_886-221del
ENST00000357568.7:c.1030-224_1030-221del	ENSP00000350181.3:n.1030-224_1030-221del
ENST00000397163.7:c.1030-224_1030-221del	ENSP00000380349.3:n.1030-224_1030-221del
NM_000070.2:c.1030-224_1030-221del	NP_000061.1:n.1030-224_1030-221del
NM_024344.1:c.1030-224_1030-221del	NP_077320.1:n.1030-224_1030-221del
NM_173087.1:c.886-224_886-221del	NP_775110.1:n.886-224_886-221del
NM_000070.3:c.1030-224_1030-221del MANE Select	NP_000061.1:n.1030-224_1030-221del
NM_024344.2:c.1030-224_1030-221del	NP_077320.1:n.1030-224_1030-221del
NM_173087.2:c.886-224_886-221del	NP_775110.1:n.886-224_886-221del