Canonical Allele Identifier: CA2782562265

Gene: FAM83H

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728589_143728594dup , CM000670.2:g.143728589_143728594dup	GRCh38
NC_000008.10:g.144810759_144810764dup , CM000670.1:g.144810759_144810764dup	GRCh37
NC_000008.9:g.144882747_144882752dup	NCBI36
NG_016652.1:g.10156_10161dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.872_877dup MANE Select	ENSP00000373565.3:p.Ala292_Arg293insLeuAla
ENST00000650760.1:c.1475_1480dup	ENSP00000499217.1:p.Ala493_Arg494insLeuAla
ENST00000388913.3:c.872_877dup	ENSP00000373565.3:p.Ala292_Arg293insLeuAla
ENST00000395103.2:c.52_57dup
NM_198488.3:c.872_877dup	NP_940890.3:p.Ala292_Arg293insLeuAla
XM_005250887.2:c.929_934dup	XP_005250944.1:p.Ala311_Arg312insLeuAla
XM_005250888.2:c.890_895dup	XP_005250945.1:p.Ala298_Arg299insLeuAla
XM_005250889.2:c.872_877dup	XP_005250946.1:p.Ala292_Arg293insLeuAla
XM_011516980.1:c.1193_1198dup	XP_011515282.1:p.Ala399_Arg400insLeuAla
XM_011516981.1:c.1040_1045dup	XP_011515283.1:p.Ala348_Arg349insLeuAla
XM_005250887.3:c.929_934dup	XP_005250944.1:p.Ala311_Arg312insLeuAla
XM_005250888.3:c.890_895dup	XP_005250945.1:p.Ala298_Arg299insLeuAla
XM_005250889.3:c.872_877dup	XP_005250946.1:p.Ala292_Arg293insLeuAla
XM_011516980.2:c.1475_1480dup	XP_011515282.2:p.Ala493_Arg494insLeuAla
XM_011516981.2:c.1040_1045dup	XP_011515283.1:p.Ala348_Arg349insLeuAla
XM_024447131.1:c.872_877dup	XP_024302899.1:p.Ala292_Arg293insLeuAla
NM_198488.4:c.872_877dup	NP_940890.3:p.Ala292_Arg293insLeuAla
NM_198488.5:c.872_877dup MANE Select	NP_940890.4:p.Ala292_Arg293insLeuAla