Canonical Allele Identifier: CA1825940743

Gene: FAM83H

Linked Data

• dbSNP Id: rs1805619815

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728395_143728400del , CM000670.2:g.143728395_143728400del	GRCh38
NC_000008.10:g.144810565_144810570del , CM000670.1:g.144810565_144810570del	GRCh37
NC_000008.9:g.144882553_144882558del	NCBI36
NG_016652.1:g.10345_10350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.1061_1066del MANE Select	ENSP00000373565.3:p.Phe354_Arg356delinsTrp
ENST00000650760.1:c.1664_1669del	ENSP00000499217.1:p.Phe555_Arg557delinsTrp
ENST00000388913.3:c.1061_1066del	ENSP00000373565.3:p.Phe354_Arg356delinsTrp
ENST00000395103.2:c.241_246del
NM_198488.3:c.1061_1066del	NP_940890.3:p.Phe354_Arg356delinsTrp
XM_005250887.2:c.1118_1123del	XP_005250944.1:p.Phe373_Arg375delinsTrp
XM_005250888.2:c.1079_1084del	XP_005250945.1:p.Phe360_Arg362delinsTrp
XM_005250889.2:c.1061_1066del	XP_005250946.1:p.Phe354_Arg356delinsTrp
XM_011516980.1:c.1382_1387del	XP_011515282.1:p.Phe461_Arg463delinsTrp
XM_011516981.1:c.1229_1234del	XP_011515283.1:p.Phe410_Arg412delinsTrp
XM_005250887.3:c.1118_1123del	XP_005250944.1:p.Phe373_Arg375delinsTrp
XM_005250888.3:c.1079_1084del	XP_005250945.1:p.Phe360_Arg362delinsTrp
XM_005250889.3:c.1061_1066del	XP_005250946.1:p.Phe354_Arg356delinsTrp
XM_011516980.2:c.1664_1669del	XP_011515282.2:p.Phe555_Arg557delinsTrp
XM_011516981.2:c.1229_1234del	XP_011515283.1:p.Phe410_Arg412delinsTrp
XM_024447131.1:c.1061_1066del	XP_024302899.1:p.Phe354_Arg356delinsTrp
NM_198488.4:c.1061_1066del	NP_940890.3:p.Phe354_Arg356delinsTrp
NM_198488.5:c.1061_1066del MANE Select	NP_940890.4:p.Phe354_Arg356delinsTrp