Canonical Allele Identifier: CA2688981270

Gene: FAM83H

Linked Data

• gnomAD v4: 8-143728532-CCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728534_143728536del , CM000670.2:g.143728534_143728536del	GRCh38
NC_000008.10:g.144810704_144810706del , CM000670.1:g.144810704_144810706del	GRCh37
NC_000008.9:g.144882692_144882694del	NCBI36
NG_016652.1:g.10210_10212del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.926_928del MANE Select	ENSP00000373565.3:p.Val309del
ENST00000650760.1:c.1529_1531del	ENSP00000499217.1:p.Val510del
ENST00000388913.3:c.926_928del	ENSP00000373565.3:p.Val309del
ENST00000395103.2:c.106_108del
NM_198488.3:c.926_928del	NP_940890.3:p.Val309del
XM_005250887.2:c.983_985del	XP_005250944.1:p.Val328del
XM_005250888.2:c.944_946del	XP_005250945.1:p.Val315del
XM_005250889.2:c.926_928del	XP_005250946.1:p.Val309del
XM_011516980.1:c.1247_1249del	XP_011515282.1:p.Val416del
XM_011516981.1:c.1094_1096del	XP_011515283.1:p.Val365del
XM_005250887.3:c.983_985del	XP_005250944.1:p.Val328del
XM_005250888.3:c.944_946del	XP_005250945.1:p.Val315del
XM_005250889.3:c.926_928del	XP_005250946.1:p.Val309del
XM_011516980.2:c.1529_1531del	XP_011515282.2:p.Val510del
XM_011516981.2:c.1094_1096del	XP_011515283.1:p.Val365del
XM_024447131.1:c.926_928del	XP_024302899.1:p.Val309del
NM_198488.4:c.926_928del	NP_940890.3:p.Val309del
NM_198488.5:c.926_928del MANE Select	NP_940890.4:p.Val309del