Canonical Allele Identifier: CA2555999901

Gene: FAM83H

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728303_143728304insTG , CM000670.2:g.143728303_143728304insTG	GRCh38
NC_000008.10:g.144810473_144810474insTG , CM000670.1:g.144810473_144810474insTG	GRCh37
NC_000008.9:g.144882461_144882462insTG	NCBI36
NG_016652.1:g.10441_10442insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.1157_1158insCA MANE Select	ENSP00000373565.3:p.Ala387ArgfsTer?
ENST00000650760.1:c.1760_1761insCA	ENSP00000499217.1:p.Ala588ArgfsTer?
ENST00000388913.3:c.1157_1158insCA	ENSP00000373565.3:p.Ala387ArgfsTer?
ENST00000395103.2:c.337_338insCA
NM_198488.3:c.1157_1158insCA	NP_940890.3:p.Ala387ArgfsTer?
XM_005250887.2:c.1214_1215insCA	XP_005250944.1:p.Ala406ArgfsTer?
XM_005250888.2:c.1175_1176insCA	XP_005250945.1:p.Ala393ArgfsTer?
XM_005250889.2:c.1157_1158insCA	XP_005250946.1:p.Ala387ArgfsTer?
XM_011516980.1:c.1478_1479insCA	XP_011515282.1:p.Ala494ArgfsTer?
XM_011516981.1:c.1325_1326insCA	XP_011515283.1:p.Ala443ArgfsTer?
XM_005250887.3:c.1214_1215insCA	XP_005250944.1:p.Ala406ArgfsTer?
XM_005250888.3:c.1175_1176insCA	XP_005250945.1:p.Ala393ArgfsTer?
XM_005250889.3:c.1157_1158insCA	XP_005250946.1:p.Ala387ArgfsTer?
XM_011516980.2:c.1760_1761insCA	XP_011515282.2:p.Ala588ArgfsTer?
XM_011516981.2:c.1325_1326insCA	XP_011515283.1:p.Ala443ArgfsTer?
XM_024447131.1:c.1157_1158insCA	XP_024302899.1:p.Ala387ArgfsTer?
NM_198488.4:c.1157_1158insCA	NP_940890.3:p.Ala387ArgfsTer?
NM_198488.5:c.1157_1158insCA MANE Select	NP_940890.4:p.Ala387ArgfsTer?