Canonical Allele Identifier: CA2623927336

Gene: CHAMP1

Linked Data

• gnomAD v4: 13-114324598-T-TTCCCCAGAACCTTGGGGACCA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.114324606_114324626dup , CM000675.2:g.114324606_114324626dup	GRCh38
NC_000013.10:g.115090081_115090101dup , CM000675.1:g.115090081_115090101dup	GRCh37
NC_000013.9:g.114108183_114108203dup	NCBI36
NG_051829.1:g.15272_15292dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643483.2:c.764_784dup	ENSP00000496699.1:p.Pro261_Ala262insGluProTrpGlyProSerPro
ENST00000644294.2:c.764_784dup	ENSP00000495985.2:p.Pro261_Ala262insGluProTrpGlyProSerPro
ENST00000645174.2:c.764_784dup	ENSP00000494031.2:p.Pro261_Ala262insGluProTrpGlyProSerPro
ENST00000700527.1:c.764_784dup	ENSP00000515032.1:p.Pro261_Ala262insGluProTrpGlyProSerPro
ENST00000700528.1:c.764_784dup	ENSP00000515033.1:p.Pro261_Ala262insGluProTrpGlyProSerPro
ENST00000361283.4:c.764_784dup MANE Select	ENSP00000354730.1:p.Pro261_Ala262insGluProTrpGlyProSerPro
ENST00000643483.1:c.764_784dup	ENSP00000496699.1:p.Pro261_Ala262insGluProTrpGlyProSerPro
ENST00000646155.1:n.123+9963_123+9983dup
ENST00000646956.1:n.285+3374_285+3394dup
ENST00000361283.2:c.764_784dup	ENSP00000354730.1:p.Pro261_Ala262insGluProTrpGlyProSerPro
NM_001164144.1:c.764_784dup	NP_001157616.1:p.Pro261_Ala262insGluProTrpGlyProSerPro
NM_001164145.1:c.764_784dup	NP_001157617.1:p.Pro261_Ala262insGluProTrpGlyProSerPro
NM_032436.2:c.764_784dup	NP_115812.1:p.Pro261_Ala262insGluProTrpGlyProSerPro
NM_001164144.2:c.764_784dup	NP_001157616.1:p.Pro261_Ala262insGluProTrpGlyProSerPro
NM_001164145.2:c.764_784dup	NP_001157617.1:p.Pro261_Ala262insGluProTrpGlyProSerPro
NM_032436.3:c.764_784dup	NP_115812.1:p.Pro261_Ala262insGluProTrpGlyProSerPro
NM_032436.4:c.764_784dup MANE Select	NP_115812.1:p.Pro261_Ala262insGluProTrpGlyProSerPro
NM_001164144.3:c.764_784dup	NP_001157616.1:p.Pro261_Ala262insGluProTrpGlyProSerPro
NM_001164145.3:c.764_784dup	NP_001157617.1:p.Pro261_Ala262insGluProTrpGlyProSerPro