Canonical Allele Identifier: CA585729878

Gene: FAM83H

Linked Data

• dbSNP Id: rs1818389147
• gnomAD v2: 8-144810536-G-GC
• gnomAD v3: 8-143728366-G-GC
• gnomAD v4: 8-143728366-G-GC
• MyVariant Identifiers: chr8:g.144810537_144810538insC (hg19) ; chr8:g.143728367_143728368insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728372dup , CM000670.2:g.143728372dup	GRCh38
NC_000008.10:g.144810542dup , CM000670.1:g.144810542dup	GRCh37
NC_000008.9:g.144882530dup	NCBI36
NG_016652.1:g.10378dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.1094dup MANE Select	ENSP00000373565.3:p.Ala366ArgfsTer?
ENST00000650760.1:c.1697dup	ENSP00000499217.1:p.Ala567ArgfsTer?
ENST00000388913.3:c.1094dup	ENSP00000373565.3:p.Ala366ArgfsTer?
ENST00000395103.2:c.274dup
NM_198488.3:c.1094dup	NP_940890.3:p.Ala366ArgfsTer?
XM_005250887.2:c.1151dup	XP_005250944.1:p.Ala385ArgfsTer?
XM_005250888.2:c.1112dup	XP_005250945.1:p.Ala372ArgfsTer?
XM_005250889.2:c.1094dup	XP_005250946.1:p.Ala366ArgfsTer?
XM_011516980.1:c.1415dup	XP_011515282.1:p.Ala473ArgfsTer?
XM_011516981.1:c.1262dup	XP_011515283.1:p.Ala422ArgfsTer?
XM_005250887.3:c.1151dup	XP_005250944.1:p.Ala385ArgfsTer?
XM_005250888.3:c.1112dup	XP_005250945.1:p.Ala372ArgfsTer?
XM_005250889.3:c.1094dup	XP_005250946.1:p.Ala366ArgfsTer?
XM_011516980.2:c.1697dup	XP_011515282.2:p.Ala567ArgfsTer?
XM_011516981.2:c.1262dup	XP_011515283.1:p.Ala422ArgfsTer?
XM_024447131.1:c.1094dup	XP_024302899.1:p.Ala366ArgfsTer?
NM_198488.4:c.1094dup	NP_940890.3:p.Ala366ArgfsTer?
NM_198488.5:c.1094dup MANE Select	NP_940890.4:p.Ala366ArgfsTer?