Canonical Allele Identifier: CA2695210312

Gene: FAM83H

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728538dup , CM000670.2:g.143728538dup	GRCh38
NC_000008.10:g.144810708dup , CM000670.1:g.144810708dup	GRCh37
NC_000008.9:g.144882696dup	NCBI36
NG_016652.1:g.10207dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.923dup MANE Select	ENSP00000373565.3:p.Val309ArgfsTer16
ENST00000650760.1:c.1526dup	ENSP00000499217.1:p.Val510ArgfsTer16
ENST00000388913.3:c.923dup	ENSP00000373565.3:p.Val309ArgfsTer16
ENST00000395103.2:c.103dup
NM_198488.3:c.923dup	NP_940890.3:p.Val309ArgfsTer16
XM_005250887.2:c.980dup	XP_005250944.1:p.Val328ArgfsTer16
XM_005250888.2:c.941dup	XP_005250945.1:p.Val315ArgfsTer16
XM_005250889.2:c.923dup	XP_005250946.1:p.Val309ArgfsTer16
XM_011516980.1:c.1244dup	XP_011515282.1:p.Val416ArgfsTer16
XM_011516981.1:c.1091dup	XP_011515283.1:p.Val365ArgfsTer16
XM_005250887.3:c.980dup	XP_005250944.1:p.Val328ArgfsTer16
XM_005250888.3:c.941dup	XP_005250945.1:p.Val315ArgfsTer16
XM_005250889.3:c.923dup	XP_005250946.1:p.Val309ArgfsTer16
XM_011516980.2:c.1526dup	XP_011515282.2:p.Val510ArgfsTer16
XM_011516981.2:c.1091dup	XP_011515283.1:p.Val365ArgfsTer16
XM_024447131.1:c.923dup	XP_024302899.1:p.Val309ArgfsTer16
NM_198488.4:c.923dup	NP_940890.3:p.Val309ArgfsTer16
NM_198488.5:c.923dup MANE Select	NP_940890.4:p.Val309ArgfsTer16