Canonical Allele Identifier: CA2688981355

Gene: FAM83H

Linked Data

• gnomAD v4: 8-143728602-A-AGCAGGTCCACATCAGTGAACATGTCCATCACCACGGCCACCACCTGCAGGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728603_143728604insCAGGTCCACATCAGTGAACATGTCCATCACCACGGCCACCACCTGCAGGGGCG , CM000670.2:g.143728603_143728604insCAGGTCCACATCAGTGAACATGTCCATCACCACGGCCACCACCTGCAGGGGCG	GRCh38
NC_000008.10:g.144810773_144810774insCAGGTCCACATCAGTGAACATGTCCATCACCACGGCCACCACCTGCAGGGGCG , CM000670.1:g.144810773_144810774insCAGGTCCACATCAGTGAACATGTCCATCACCACGGCCACCACCTGCAGGGGCG	GRCh37
NC_000008.9:g.144882761_144882762insCAGGTCCACATCAGTGAACATGTCCATCACCACGGCCACCACCTGCAGGGGCG	NCBI36
NG_016652.1:g.10142_10143insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.858_859insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC MANE Select	ENSP00000373565.3:p.Ser287AlafsTer14
ENST00000650760.1:c.1461_1462insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC	ENSP00000499217.1:p.Ser488AlafsTer14
ENST00000388913.3:c.858_859insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC	ENSP00000373565.3:p.Ser287AlafsTer14
ENST00000395103.2:c.38_39insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC
NM_198488.3:c.858_859insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC	NP_940890.3:p.Ser287AlafsTer14
XM_005250887.2:c.915_916insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC	XP_005250944.1:p.Ser306AlafsTer14
XM_005250888.2:c.876_877insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC	XP_005250945.1:p.Ser293AlafsTer14
XM_005250889.2:c.858_859insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC	XP_005250946.1:p.Ser287AlafsTer14
XM_011516980.1:c.1179_1180insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC	XP_011515282.1:p.Ser394AlafsTer14
XM_011516981.1:c.1026_1027insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC	XP_011515283.1:p.Ser343AlafsTer14
XM_005250887.3:c.915_916insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC	XP_005250944.1:p.Ser306AlafsTer14
XM_005250888.3:c.876_877insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC	XP_005250945.1:p.Ser293AlafsTer14
XM_005250889.3:c.858_859insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC	XP_005250946.1:p.Ser287AlafsTer14
XM_011516980.2:c.1461_1462insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC	XP_011515282.2:p.Ser488AlafsTer14
XM_011516981.2:c.1026_1027insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC	XP_011515283.1:p.Ser343AlafsTer14
XM_024447131.1:c.858_859insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC	XP_024302899.1:p.Ser287AlafsTer14
NM_198488.4:c.858_859insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC	NP_940890.3:p.Ser287AlafsTer14
NM_198488.5:c.858_859insGCCCCTGCAGGTGGTGGCCGTGGTGATGGACATGTTCACTGATGTGGACCTGC MANE Select	NP_940890.4:p.Ser287AlafsTer14