Canonical Allele Identifier: CA2688981336

Gene: FAM83H

Linked Data

• gnomAD v4: 8-143728600-C-CTCCAGCACTTCGCTGAGCAGGTCCACATCAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728600_143728601insTCCAGCACTTCGCTGAGCAGGTCCACATCAGT , CM000670.2:g.143728600_143728601insTCCAGCACTTCGCTGAGCAGGTCCACATCAGT	GRCh38
NC_000008.10:g.144810770_144810771insTCCAGCACTTCGCTGAGCAGGTCCACATCAGT , CM000670.1:g.144810770_144810771insTCCAGCACTTCGCTGAGCAGGTCCACATCAGT	GRCh37
NC_000008.9:g.144882758_144882759insTCCAGCACTTCGCTGAGCAGGTCCACATCAGT	NCBI36
NG_016652.1:g.10144_10145insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.860_861insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA MANE Select	ENSP00000373565.3:p.Ala288LeufsTer?
ENST00000650760.1:c.1463_1464insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA	ENSP00000499217.1:p.Ala489LeufsTer?
ENST00000388913.3:c.860_861insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA	ENSP00000373565.3:p.Ala288LeufsTer?
ENST00000395103.2:c.40_41insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA
NM_198488.3:c.860_861insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA	NP_940890.3:p.Ala288LeufsTer?
XM_005250887.2:c.917_918insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA	XP_005250944.1:p.Ala307LeufsTer?
XM_005250888.2:c.878_879insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA	XP_005250945.1:p.Ala294LeufsTer?
XM_005250889.2:c.860_861insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA	XP_005250946.1:p.Ala288LeufsTer?
XM_011516980.1:c.1181_1182insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA	XP_011515282.1:p.Ala395LeufsTer?
XM_011516981.1:c.1028_1029insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA	XP_011515283.1:p.Ala344LeufsTer?
XM_005250887.3:c.917_918insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA	XP_005250944.1:p.Ala307LeufsTer?
XM_005250888.3:c.878_879insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA	XP_005250945.1:p.Ala294LeufsTer?
XM_005250889.3:c.860_861insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA	XP_005250946.1:p.Ala288LeufsTer?
XM_011516980.2:c.1463_1464insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA	XP_011515282.2:p.Ala489LeufsTer?
XM_011516981.2:c.1028_1029insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA	XP_011515283.1:p.Ala344LeufsTer?
XM_024447131.1:c.860_861insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA	XP_024302899.1:p.Ala288LeufsTer?
NM_198488.4:c.860_861insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA	NP_940890.3:p.Ala288LeufsTer?
NM_198488.5:c.860_861insACTGATGTGGACCTGCTCAGCGAAGTGCTGGA MANE Select	NP_940890.4:p.Ala288LeufsTer?