Canonical Allele Identifier: CA2688981309

Gene: FAM83H

Linked Data

• gnomAD v4: 8-143728583-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728586dup , CM000670.2:g.143728586dup	GRCh38
NC_000008.10:g.144810756dup , CM000670.1:g.144810756dup	GRCh37
NC_000008.9:g.144882744dup	NCBI36
NG_016652.1:g.10161dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.877dup MANE Select	ENSP00000373565.3:p.Arg293ProfsTer?
ENST00000650760.1:c.1480dup	ENSP00000499217.1:p.Arg494ProfsTer?
ENST00000388913.3:c.877dup	ENSP00000373565.3:p.Arg293ProfsTer?
ENST00000395103.2:c.57dup
NM_198488.3:c.877dup	NP_940890.3:p.Arg293ProfsTer?
XM_005250887.2:c.934dup	XP_005250944.1:p.Arg312ProfsTer?
XM_005250888.2:c.895dup	XP_005250945.1:p.Arg299ProfsTer?
XM_005250889.2:c.877dup	XP_005250946.1:p.Arg293ProfsTer?
XM_011516980.1:c.1198dup	XP_011515282.1:p.Arg400ProfsTer?
XM_011516981.1:c.1045dup	XP_011515283.1:p.Arg349ProfsTer?
XM_005250887.3:c.934dup	XP_005250944.1:p.Arg312ProfsTer?
XM_005250888.3:c.895dup	XP_005250945.1:p.Arg299ProfsTer?
XM_005250889.3:c.877dup	XP_005250946.1:p.Arg293ProfsTer?
XM_011516980.2:c.1480dup	XP_011515282.2:p.Arg494ProfsTer?
XM_011516981.2:c.1045dup	XP_011515283.1:p.Arg349ProfsTer?
XM_024447131.1:c.877dup	XP_024302899.1:p.Arg293ProfsTer?
NM_198488.4:c.877dup	NP_940890.3:p.Arg293ProfsTer?
NM_198488.5:c.877dup MANE Select	NP_940890.4:p.Arg293ProfsTer?