Canonical Allele Identifier: CA2688981398

Gene: FAM83H

Linked Data

• gnomAD v4: 8-143728646-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728647dup , CM000670.2:g.143728647dup	GRCh38
NC_000008.10:g.144810817dup , CM000670.1:g.144810817dup	GRCh37
NC_000008.9:g.144882805dup	NCBI36
NG_016652.1:g.10098dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.814dup MANE Select	ENSP00000373565.3:p.Glu272GlyfsTer?
ENST00000650760.1:c.1417dup	ENSP00000499217.1:p.Glu473GlyfsTer?
ENST00000388913.3:c.814dup	ENSP00000373565.3:p.Glu272GlyfsTer?
NM_198488.3:c.814dup	NP_940890.3:p.Glu272GlyfsTer?
XM_005250887.2:c.871dup	XP_005250944.1:p.Glu291GlyfsTer?
XM_005250888.2:c.832dup	XP_005250945.1:p.Glu278GlyfsTer?
XM_005250889.2:c.814dup	XP_005250946.1:p.Glu272GlyfsTer?
XM_011516980.1:c.1135dup	XP_011515282.1:p.Glu379GlyfsTer?
XM_011516981.1:c.982dup	XP_011515283.1:p.Glu328GlyfsTer?
XM_005250887.3:c.871dup	XP_005250944.1:p.Glu291GlyfsTer?
XM_005250888.3:c.832dup	XP_005250945.1:p.Glu278GlyfsTer?
XM_005250889.3:c.814dup	XP_005250946.1:p.Glu272GlyfsTer?
XM_011516980.2:c.1417dup	XP_011515282.2:p.Glu473GlyfsTer?
XM_011516981.2:c.982dup	XP_011515283.1:p.Glu328GlyfsTer?
XM_024447131.1:c.814dup	XP_024302899.1:p.Glu272GlyfsTer?
NM_198488.4:c.814dup	NP_940890.3:p.Glu272GlyfsTer?
NM_198488.5:c.814dup MANE Select	NP_940890.4:p.Glu272GlyfsTer?