Canonical Allele Identifier: CA2580078633

Gene: FAM83H

Linked Data

• ClinVar Variation Id: 2445422
• ClinVar RCV Id: RCV003154832

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728526_143728535dup , CM000670.2:g.143728526_143728535dup	GRCh38
NC_000008.10:g.144810696_144810705dup , CM000670.1:g.144810696_144810705dup	GRCh37
NC_000008.9:g.144882684_144882693dup	NCBI36
NG_016652.1:g.10214_10223dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.930_939dup MANE Select	ENSP00000373565.3:p.Val314ArgfsTer14
ENST00000650760.1:c.1533_1542dup	ENSP00000499217.1:p.Val515ArgfsTer14
ENST00000388913.3:c.930_939dup	ENSP00000373565.3:p.Val314ArgfsTer14
ENST00000395103.2:c.110_119dup
NM_198488.3:c.930_939dup	NP_940890.3:p.Val314ArgfsTer14
XM_005250887.2:c.987_996dup	XP_005250944.1:p.Val333ArgfsTer14
XM_005250888.2:c.948_957dup	XP_005250945.1:p.Val320ArgfsTer14
XM_005250889.2:c.930_939dup	XP_005250946.1:p.Val314ArgfsTer14
XM_011516980.1:c.1251_1260dup	XP_011515282.1:p.Val421ArgfsTer14
XM_011516981.1:c.1098_1107dup	XP_011515283.1:p.Val370ArgfsTer14
XM_005250887.3:c.987_996dup	XP_005250944.1:p.Val333ArgfsTer14
XM_005250888.3:c.948_957dup	XP_005250945.1:p.Val320ArgfsTer14
XM_005250889.3:c.930_939dup	XP_005250946.1:p.Val314ArgfsTer14
XM_011516980.2:c.1533_1542dup	XP_011515282.2:p.Val515ArgfsTer14
XM_011516981.2:c.1098_1107dup	XP_011515283.1:p.Val370ArgfsTer14
XM_024447131.1:c.930_939dup	XP_024302899.1:p.Val314ArgfsTer14
NM_198488.4:c.930_939dup	NP_940890.3:p.Val314ArgfsTer14
NM_198488.5:c.930_939dup MANE Select	NP_940890.4:p.Val314ArgfsTer14