Canonical Allele Identifier: CA1825940680

Gene: FAM83H

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728298_143728301delinsCCAG , CM000670.2:g.143728298_143728301delinsCCAG	GRCh38
NC_000008.10:g.144810468_144810471delinsCCAG , CM000670.1:g.144810468_144810471delinsCCAG	GRCh37
NC_000008.9:g.144882456_144882459delinsCCAG	NCBI36
NG_016652.1:g.10444_10447delinsCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.1160_1163delinsCTGG MANE Select	ENSP00000373565.3:p.Ala387=
ENST00000650760.1:c.1763_1766delinsCTGG	ENSP00000499217.1:p.Ala588=
ENST00000388913.3:c.1160_1163delinsCTGG	ENSP00000373565.3:p.Ala387=
ENST00000395103.2:c.340_343delinsCTGG
NM_198488.3:c.1160_1163delinsCTGG	NP_940890.3:p.Ala387=
XM_005250887.2:c.1217_1220delinsCTGG	XP_005250944.1:p.Ala406=
XM_005250888.2:c.1178_1181delinsCTGG	XP_005250945.1:p.Ala393=
XM_005250889.2:c.1160_1163delinsCTGG	XP_005250946.1:p.Ala387=
XM_011516980.1:c.1481_1484delinsCTGG	XP_011515282.1:p.Ala494=
XM_011516981.1:c.1328_1331delinsCTGG	XP_011515283.1:p.Ala443=
XM_005250887.3:c.1217_1220delinsCTGG	XP_005250944.1:p.Ala406=
XM_005250888.3:c.1178_1181delinsCTGG	XP_005250945.1:p.Ala393=
XM_005250889.3:c.1160_1163delinsCTGG	XP_005250946.1:p.Ala387=
XM_011516980.2:c.1763_1766delinsCTGG	XP_011515282.2:p.Ala588=
XM_011516981.2:c.1328_1331delinsCTGG	XP_011515283.1:p.Ala443=
XM_024447131.1:c.1160_1163delinsCTGG	XP_024302899.1:p.Ala387=
NM_198488.4:c.1160_1163delinsCTGG	NP_940890.3:p.Ala387=
NM_198488.5:c.1160_1163delinsCTGG MANE Select	NP_940890.4:p.Ala387=