Canonical Allele Identifier: CA2688981256

Gene: FAM83H

Linked Data

• gnomAD v4: 8-143728520-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728524del , CM000670.2:g.143728524del	GRCh38
NC_000008.10:g.144810694del , CM000670.1:g.144810694del	GRCh37
NC_000008.9:g.144882682del	NCBI36
NG_016652.1:g.10224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.940del MANE Select	ENSP00000373565.3:p.Val314SerfsTer?
ENST00000650760.1:c.1543del	ENSP00000499217.1:p.Val515SerfsTer?
ENST00000388913.3:c.940del	ENSP00000373565.3:p.Val314SerfsTer?
ENST00000395103.2:c.120del
NM_198488.3:c.940del	NP_940890.3:p.Val314SerfsTer?
XM_005250887.2:c.997del	XP_005250944.1:p.Val333SerfsTer?
XM_005250888.2:c.958del	XP_005250945.1:p.Val320SerfsTer?
XM_005250889.2:c.940del	XP_005250946.1:p.Val314SerfsTer?
XM_011516980.1:c.1261del	XP_011515282.1:p.Val421SerfsTer?
XM_011516981.1:c.1108del	XP_011515283.1:p.Val370SerfsTer?
XM_005250887.3:c.997del	XP_005250944.1:p.Val333SerfsTer?
XM_005250888.3:c.958del	XP_005250945.1:p.Val320SerfsTer?
XM_005250889.3:c.940del	XP_005250946.1:p.Val314SerfsTer?
XM_011516980.2:c.1543del	XP_011515282.2:p.Val515SerfsTer?
XM_011516981.2:c.1108del	XP_011515283.1:p.Val370SerfsTer?
XM_024447131.1:c.940del	XP_024302899.1:p.Val314SerfsTer?
NM_198488.4:c.940del	NP_940890.3:p.Val314SerfsTer?
NM_198488.5:c.940del MANE Select	NP_940890.4:p.Val314SerfsTer?