Allele Registry

Canonical Allele Identifier: CA9720963

Gene: DEFB126 HGNC NCBI

Linked Data - Expert Curation

COSMIC:

COSM4593567

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr20:g.145519_145522del

GRCh38 chr20:g.145516_145519del

GRCh38 chr20:g.145515_145518del

GRCh37 chr20:g.126160_126163del

GRCh37 chr20:g.126156_126159del

Linked Data - Sequence & Population

gnomAD v2:

20:126155 GCAAA / G

gnomAD v3:

20:145514 GCAAA / G

gnomAD v4:

chr20-145514-GCAAA-G

Joint Max Group AF 0.25914394 (AFR)

Genomes Max Group AF 0.25621686 (AFR)

Exomes Max Group AF 0.25994484 (AFR)

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000454784

ClinVar Variation:

402585

dbSNP:

11467497

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.145519_145522del , CM000682.2:g.145519_145522del	GRCh38
NC_000020.10:g.126160_126163del , CM000682.1:g.126160_126163del	GRCh37
NC_000020.9:g.74160_74163del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382398.4:c.163_166del MANE Select	ENSP00000371835.3:p.Gln55GlyfsTer28
ENST00000382398.3:c.163_166del	ENSP00000371835.3:p.Gln55GlyfsTer28
ENST00000542572.1:n.127+31_127+34del
NM_030931.3:c.163_166del	NP_112193.1:p.Gln55GlyfsTer28
NM_030931.4:c.163_166del MANE Select	NP_112193.1:p.Gln55GlyfsTer28

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