Canonical Allele Identifier: CA2688981369

Gene: FAM83H

Linked Data

• gnomAD v4: 8-143728615-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728616dup , CM000670.2:g.143728616dup	GRCh38
NC_000008.10:g.144810786dup , CM000670.1:g.144810786dup	GRCh37
NC_000008.9:g.144882774dup	NCBI36
NG_016652.1:g.10129dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.845dup MANE Select	ENSP00000373565.3:p.Pro283AlafsTer?
ENST00000650760.1:c.1448dup	ENSP00000499217.1:p.Pro484AlafsTer?
ENST00000388913.3:c.845dup	ENSP00000373565.3:p.Pro283AlafsTer?
ENST00000395103.2:c.25dup
NM_198488.3:c.845dup	NP_940890.3:p.Pro283AlafsTer?
XM_005250887.2:c.902dup	XP_005250944.1:p.Pro302AlafsTer?
XM_005250888.2:c.863dup	XP_005250945.1:p.Pro289AlafsTer?
XM_005250889.2:c.845dup	XP_005250946.1:p.Pro283AlafsTer?
XM_011516980.1:c.1166dup	XP_011515282.1:p.Pro390AlafsTer?
XM_011516981.1:c.1013dup	XP_011515283.1:p.Pro339AlafsTer?
XM_005250887.3:c.902dup	XP_005250944.1:p.Pro302AlafsTer?
XM_005250888.3:c.863dup	XP_005250945.1:p.Pro289AlafsTer?
XM_005250889.3:c.845dup	XP_005250946.1:p.Pro283AlafsTer?
XM_011516980.2:c.1448dup	XP_011515282.2:p.Pro484AlafsTer?
XM_011516981.2:c.1013dup	XP_011515283.1:p.Pro339AlafsTer?
XM_024447131.1:c.845dup	XP_024302899.1:p.Pro283AlafsTer?
NM_198488.4:c.845dup	NP_940890.3:p.Pro283AlafsTer?
NM_198488.5:c.845dup MANE Select	NP_940890.4:p.Pro283AlafsTer?