Canonical Allele Identifier: CA2688981315

Gene: FAM83H

Linked Data

• gnomAD v4: 8-143728589-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728592del , CM000670.2:g.143728592del	GRCh38
NC_000008.10:g.144810762del , CM000670.1:g.144810762del	GRCh37
NC_000008.9:g.144882750del	NCBI36
NG_016652.1:g.10155del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.871del MANE Select	ENSP00000373565.3:p.Leu291TrpfsTer?
ENST00000650760.1:c.1474del	ENSP00000499217.1:p.Leu492TrpfsTer?
ENST00000388913.3:c.871del	ENSP00000373565.3:p.Leu291TrpfsTer?
ENST00000395103.2:c.51del
NM_198488.3:c.871del	NP_940890.3:p.Leu291TrpfsTer?
XM_005250887.2:c.928del	XP_005250944.1:p.Leu310TrpfsTer?
XM_005250888.2:c.889del	XP_005250945.1:p.Leu297TrpfsTer?
XM_005250889.2:c.871del	XP_005250946.1:p.Leu291TrpfsTer?
XM_011516980.1:c.1192del	XP_011515282.1:p.Leu398TrpfsTer?
XM_011516981.1:c.1039del	XP_011515283.1:p.Leu347TrpfsTer?
XM_005250887.3:c.928del	XP_005250944.1:p.Leu310TrpfsTer?
XM_005250888.3:c.889del	XP_005250945.1:p.Leu297TrpfsTer?
XM_005250889.3:c.871del	XP_005250946.1:p.Leu291TrpfsTer?
XM_011516980.2:c.1474del	XP_011515282.2:p.Leu492TrpfsTer?
XM_011516981.2:c.1039del	XP_011515283.1:p.Leu347TrpfsTer?
XM_024447131.1:c.871del	XP_024302899.1:p.Leu291TrpfsTer?
NM_198488.4:c.871del	NP_940890.3:p.Leu291TrpfsTer?
NM_198488.5:c.871del MANE Select	NP_940890.4:p.Leu291TrpfsTer?