Allele Registry

Canonical Allele Identifier: CA204447

Gene: CHAMP1 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr13:g.114325708_114325709del

GRCh37 chr13:g.115091183_115091184del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000190454

RCV000192000

ClinVar Variation:

208417

dbSNP:

797044963

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.114325708_114325709del , CM000675.2:g.114325708_114325709del	GRCh38
NC_000013.10:g.115091183_115091184del , CM000675.1:g.115091183_115091184del	GRCh37
NC_000013.9:g.114109285_114109286del	NCBI36
NG_051829.1:g.16374_16375del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643483.2:c.1866_1867del	ENSP00000496699.1:p.Asp622GlufsTer8
ENST00000644294.2:c.1866_1867del	ENSP00000495985.2:p.Asp622GlufsTer8
ENST00000645174.2:c.1866_1867del	ENSP00000494031.2:p.Asp622GlufsTer8
ENST00000700527.1:c.1866_1867del	ENSP00000515032.1:p.Asp622GlufsTer8
ENST00000700528.1:c.1866_1867del	ENSP00000515033.1:p.Asp622GlufsTer8
ENST00000361283.4:c.1866_1867del MANE Select	ENSP00000354730.1:p.Asp622GlufsTer8
ENST00000643483.1:c.1866_1867del	ENSP00000496699.1:p.Asp622GlufsTer8
ENST00000646155.1:n.123+11065_123+11066del
ENST00000646956.1:n.285+4476_285+4477del
ENST00000361283.2:c.1866_1867del	ENSP00000354730.1:p.Asp622GlufsTer8
NM_001164144.1:c.1866_1867del	NP_001157616.1:p.Asp622GlufsTer8
NM_001164145.1:c.1866_1867del	NP_001157617.1:p.Asp622GlufsTer8
NM_032436.2:c.1866_1867del	NP_115812.1:p.Asp622GlufsTer8
NM_001164144.2:c.1866_1867del	NP_001157616.1:p.Asp622GlufsTer8
NM_001164145.2:c.1866_1867del	NP_001157617.1:p.Asp622GlufsTer8
NM_032436.3:c.1866_1867del	NP_115812.1:p.Asp622GlufsTer8
NM_032436.4:c.1866_1867del MANE Select	NP_115812.1:p.Asp622GlufsTer8
NM_001164144.3:c.1866_1867del	NP_001157616.1:p.Asp622GlufsTer8
NM_001164145.3:c.1866_1867del	NP_001157617.1:p.Asp622GlufsTer8

Search 100 bp 5'

Search 100 bp 3'