Canonical Allele Identifier: CA1825940822

Gene: FAM83H

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728523_143728526delinsCCAG , CM000670.2:g.143728523_143728526delinsCCAG	GRCh38
NC_000008.10:g.144810693_144810696delinsCCAG , CM000670.1:g.144810693_144810696delinsCCAG	GRCh37
NC_000008.9:g.144882681_144882684delinsCCAG	NCBI36
NG_016652.1:g.10219_10222delinsCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.935_938delinsCTGG MANE Select	ENSP00000373565.3:p.Pro312=
ENST00000650760.1:c.1538_1541delinsCTGG	ENSP00000499217.1:p.Pro513=
ENST00000388913.3:c.935_938delinsCTGG	ENSP00000373565.3:p.Pro312=
ENST00000395103.2:c.115_118delinsCTGG
NM_198488.3:c.935_938delinsCTGG	NP_940890.3:p.Pro312=
XM_005250887.2:c.992_995delinsCTGG	XP_005250944.1:p.Pro331=
XM_005250888.2:c.953_956delinsCTGG	XP_005250945.1:p.Pro318=
XM_005250889.2:c.935_938delinsCTGG	XP_005250946.1:p.Pro312=
XM_011516980.1:c.1256_1259delinsCTGG	XP_011515282.1:p.Pro419=
XM_011516981.1:c.1103_1106delinsCTGG	XP_011515283.1:p.Pro368=
XM_005250887.3:c.992_995delinsCTGG	XP_005250944.1:p.Pro331=
XM_005250888.3:c.953_956delinsCTGG	XP_005250945.1:p.Pro318=
XM_005250889.3:c.935_938delinsCTGG	XP_005250946.1:p.Pro312=
XM_011516980.2:c.1538_1541delinsCTGG	XP_011515282.2:p.Pro513=
XM_011516981.2:c.1103_1106delinsCTGG	XP_011515283.1:p.Pro368=
XM_024447131.1:c.935_938delinsCTGG	XP_024302899.1:p.Pro312=
NM_198488.4:c.935_938delinsCTGG	NP_940890.3:p.Pro312=
NM_198488.5:c.935_938delinsCTGG MANE Select	NP_940890.4:p.Pro312=