Canonical Allele Identifier: CA1825940653

Gene: FAM83H

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728263_143728264delinsGC , CM000670.2:g.143728263_143728264delinsGC	GRCh38
NC_000008.10:g.144810433_144810434delinsGC , CM000670.1:g.144810433_144810434delinsGC	GRCh37
NC_000008.9:g.144882421_144882422delinsGC	NCBI36
NG_016652.1:g.10481_10482delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.1197_1198delinsGC MANE Select	ENSP00000373565.3:p.Ala399=
ENST00000650760.1:c.1800_1801delinsGC	ENSP00000499217.1:p.Ala600=
ENST00000388913.3:c.1197_1198delinsGC	ENSP00000373565.3:p.Ala399=
ENST00000395103.2:c.377_378delinsGC
NM_198488.3:c.1197_1198delinsGC	NP_940890.3:p.Ala399=
XM_005250887.2:c.1254_1255delinsGC	XP_005250944.1:p.Ala418=
XM_005250888.2:c.1215_1216delinsGC	XP_005250945.1:p.Ala405=
XM_005250889.2:c.1197_1198delinsGC	XP_005250946.1:p.Ala399=
XM_011516980.1:c.1518_1519delinsGC	XP_011515282.1:p.Ala506=
XM_011516981.1:c.1365_1366delinsGC	XP_011515283.1:p.Ala455=
XM_005250887.3:c.1254_1255delinsGC	XP_005250944.1:p.Ala418=
XM_005250888.3:c.1215_1216delinsGC	XP_005250945.1:p.Ala405=
XM_005250889.3:c.1197_1198delinsGC	XP_005250946.1:p.Ala399=
XM_011516980.2:c.1800_1801delinsGC	XP_011515282.2:p.Ala600=
XM_011516981.2:c.1365_1366delinsGC	XP_011515283.1:p.Ala455=
XM_024447131.1:c.1197_1198delinsGC	XP_024302899.1:p.Ala399=
NM_198488.4:c.1197_1198delinsGC	NP_940890.3:p.Ala399=
NM_198488.5:c.1197_1198delinsGC MANE Select	NP_940890.4:p.Ala399=