Canonical Allele Identifier: CA7070709

Gene: CHAMP1

Linked Data

• dbSNP Id: rs782372333
• ExAC: 13:115090208 C / CCCAGAGCCTAGGAGA
• gnomAD v2: 13-115090208-C-CCCAGAGCCTAGGAGA
• gnomAD v4: 13-114324733-C-CCCAGAGCCTAGGAGA
• MyVariant Identifiers: chr13:g.115090208_115090209insCCAGAGCCTAGGAGA (hg19) ; chr13:g.114324733_114324734insCCAGAGCCTAGGAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.114324738_114324752dup , CM000675.2:g.114324738_114324752dup	GRCh38
NC_000013.10:g.115090213_115090227dup , CM000675.1:g.115090213_115090227dup	GRCh37
NC_000013.9:g.114108315_114108329dup	NCBI36
NG_051829.1:g.15404_15418dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643483.2:c.896_910dup	ENSP00000496699.1:p.Pro303_Ala304insGluProArgArgPro
ENST00000644294.2:c.896_910dup	ENSP00000495985.2:p.Pro303_Ala304insGluProArgArgPro
ENST00000645174.2:c.896_910dup	ENSP00000494031.2:p.Pro303_Ala304insGluProArgArgPro
ENST00000700527.1:c.896_910dup	ENSP00000515032.1:p.Pro303_Ala304insGluProArgArgPro
ENST00000700528.1:c.896_910dup	ENSP00000515033.1:p.Pro303_Ala304insGluProArgArgPro
ENST00000361283.4:c.896_910dup MANE Select	ENSP00000354730.1:p.Pro303_Ala304insGluProArgArgPro
ENST00000643483.1:c.896_910dup	ENSP00000496699.1:p.Pro303_Ala304insGluProArgArgPro
ENST00000646155.1:n.123+10095_123+10109dup
ENST00000646956.1:n.285+3506_285+3520dup
ENST00000361283.2:c.896_910dup	ENSP00000354730.1:p.Pro303_Ala304insGluProArgArgPro
NM_001164144.1:c.896_910dup	NP_001157616.1:p.Pro303_Ala304insGluProArgArgPro
NM_001164145.1:c.896_910dup	NP_001157617.1:p.Pro303_Ala304insGluProArgArgPro
NM_032436.2:c.896_910dup	NP_115812.1:p.Pro303_Ala304insGluProArgArgPro
NM_001164144.2:c.896_910dup	NP_001157616.1:p.Pro303_Ala304insGluProArgArgPro
NM_001164145.2:c.896_910dup	NP_001157617.1:p.Pro303_Ala304insGluProArgArgPro
NM_032436.3:c.896_910dup	NP_115812.1:p.Pro303_Ala304insGluProArgArgPro
NM_032436.4:c.896_910dup MANE Select	NP_115812.1:p.Pro303_Ala304insGluProArgArgPro
NM_001164144.3:c.896_910dup	NP_001157616.1:p.Pro303_Ala304insGluProArgArgPro
NM_001164145.3:c.896_910dup	NP_001157617.1:p.Pro303_Ala304insGluProArgArgPro