Canonical Allele Identifier: CA2579273274

Gene: FAM83H

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728450_143728455del , CM000670.2:g.143728450_143728455del	GRCh38
NC_000008.10:g.144810620_144810625del , CM000670.1:g.144810620_144810625del	GRCh37
NC_000008.9:g.144882608_144882613del	NCBI36
NG_016652.1:g.10290_10295del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.1006_1011del MANE Select	ENSP00000373565.3:p.Glu336_Gly337del
ENST00000650760.1:c.1609_1614del	ENSP00000499217.1:p.Glu537_Gly538del
ENST00000388913.3:c.1006_1011del	ENSP00000373565.3:p.Glu336_Gly337del
ENST00000395103.2:c.186_191del
NM_198488.3:c.1006_1011del	NP_940890.3:p.Glu336_Gly337del
XM_005250887.2:c.1063_1068del	XP_005250944.1:p.Glu355_Gly356del
XM_005250888.2:c.1024_1029del	XP_005250945.1:p.Glu342_Gly343del
XM_005250889.2:c.1006_1011del	XP_005250946.1:p.Glu336_Gly337del
XM_011516980.1:c.1327_1332del	XP_011515282.1:p.Glu443_Gly444del
XM_011516981.1:c.1174_1179del	XP_011515283.1:p.Glu392_Gly393del
XM_005250887.3:c.1063_1068del	XP_005250944.1:p.Glu355_Gly356del
XM_005250888.3:c.1024_1029del	XP_005250945.1:p.Glu342_Gly343del
XM_005250889.3:c.1006_1011del	XP_005250946.1:p.Glu336_Gly337del
XM_011516980.2:c.1609_1614del	XP_011515282.2:p.Glu537_Gly538del
XM_011516981.2:c.1174_1179del	XP_011515283.1:p.Glu392_Gly393del
XM_024447131.1:c.1006_1011del	XP_024302899.1:p.Glu336_Gly337del
NM_198488.4:c.1006_1011del	NP_940890.3:p.Glu336_Gly337del
NM_198488.5:c.1006_1011del MANE Select	NP_940890.4:p.Glu336_Gly337del