Canonical Allele Identifier: CA1825940753

Gene: FAM83H

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728409_143728418delinsAGGAAGTGGC , CM000670.2:g.143728409_143728418delinsAGGAAGTGGC	GRCh38
NC_000008.10:g.144810579_144810588delinsAGGAAGTGGC , CM000670.1:g.144810579_144810588delinsAGGAAGTGGC	GRCh37
NC_000008.9:g.144882567_144882576delinsAGGAAGTGGC	NCBI36
NG_016652.1:g.10327_10336delinsGCCACTTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.1043_1052delinsGCCACTTCCT MANE Select	ENSP00000373565.3:p.Arg348=
ENST00000650760.1:c.1646_1655delinsGCCACTTCCT	ENSP00000499217.1:p.Arg549=
ENST00000388913.3:c.1043_1052delinsGCCACTTCCT	ENSP00000373565.3:p.Arg348=
ENST00000395103.2:c.223_232delinsGCCACTTCCT
NM_198488.3:c.1043_1052delinsGCCACTTCCT	NP_940890.3:p.Arg348=
XM_005250887.2:c.1100_1109delinsGCCACTTCCT	XP_005250944.1:p.Arg367=
XM_005250888.2:c.1061_1070delinsGCCACTTCCT	XP_005250945.1:p.Arg354=
XM_005250889.2:c.1043_1052delinsGCCACTTCCT	XP_005250946.1:p.Arg348=
XM_011516980.1:c.1364_1373delinsGCCACTTCCT	XP_011515282.1:p.Arg455=
XM_011516981.1:c.1211_1220delinsGCCACTTCCT	XP_011515283.1:p.Arg404=
XM_005250887.3:c.1100_1109delinsGCCACTTCCT	XP_005250944.1:p.Arg367=
XM_005250888.3:c.1061_1070delinsGCCACTTCCT	XP_005250945.1:p.Arg354=
XM_005250889.3:c.1043_1052delinsGCCACTTCCT	XP_005250946.1:p.Arg348=
XM_011516980.2:c.1646_1655delinsGCCACTTCCT	XP_011515282.2:p.Arg549=
XM_011516981.2:c.1211_1220delinsGCCACTTCCT	XP_011515283.1:p.Arg404=
XM_024447131.1:c.1043_1052delinsGCCACTTCCT	XP_024302899.1:p.Arg348=
NM_198488.4:c.1043_1052delinsGCCACTTCCT	NP_940890.3:p.Arg348=
NM_198488.5:c.1043_1052delinsGCCACTTCCT MANE Select	NP_940890.4:p.Arg348=