Canonical Allele Identifier: CA2506029743

Gene: FAM83H

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728300del , CM000670.2:g.143728300del	GRCh38
NC_000008.10:g.144810470del , CM000670.1:g.144810470del	GRCh37
NC_000008.9:g.144882458del	NCBI36
NG_016652.1:g.10445del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.1161del MANE Select	ENSP00000373565.3:p.Glu389SerfsTer?
ENST00000650760.1:c.1764del	ENSP00000499217.1:p.Glu590SerfsTer?
ENST00000388913.3:c.1161del	ENSP00000373565.3:p.Glu389SerfsTer?
ENST00000395103.2:c.341del
NM_198488.3:c.1161del	NP_940890.3:p.Glu389SerfsTer?
XM_005250887.2:c.1218del	XP_005250944.1:p.Glu408SerfsTer?
XM_005250888.2:c.1179del	XP_005250945.1:p.Glu395SerfsTer?
XM_005250889.2:c.1161del	XP_005250946.1:p.Glu389SerfsTer?
XM_011516980.1:c.1482del	XP_011515282.1:p.Glu496SerfsTer?
XM_011516981.1:c.1329del	XP_011515283.1:p.Glu445SerfsTer?
XM_005250887.3:c.1218del	XP_005250944.1:p.Glu408SerfsTer?
XM_005250888.3:c.1179del	XP_005250945.1:p.Glu395SerfsTer?
XM_005250889.3:c.1161del	XP_005250946.1:p.Glu389SerfsTer?
XM_011516980.2:c.1764del	XP_011515282.2:p.Glu590SerfsTer?
XM_011516981.2:c.1329del	XP_011515283.1:p.Glu445SerfsTer?
XM_024447131.1:c.1161del	XP_024302899.1:p.Glu389SerfsTer?
NM_198488.4:c.1161del	NP_940890.3:p.Glu389SerfsTer?
NM_198488.5:c.1161del MANE Select	NP_940890.4:p.Glu389SerfsTer?