Canonical Allele Identifier: CA2688981335

Gene: FAM83H

Linked Data

• gnomAD v4: 8-143728600-C-CTCCAGCACTTCGCTGAGCAGGTCCACATCA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728600_143728601insTCCAGCACTTCGCTGAGCAGGTCCACATCA , CM000670.2:g.143728600_143728601insTCCAGCACTTCGCTGAGCAGGTCCACATCA	GRCh38
NC_000008.10:g.144810770_144810771insTCCAGCACTTCGCTGAGCAGGTCCACATCA , CM000670.1:g.144810770_144810771insTCCAGCACTTCGCTGAGCAGGTCCACATCA	GRCh37
NC_000008.9:g.144882758_144882759insTCCAGCACTTCGCTGAGCAGGTCCACATCA	NCBI36
NG_016652.1:g.10144_10145insTGATGTGGACCTGCTCAGCGAAGTGCTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.860_861insTGATGTGGACCTGCTCAGCGAAGTGCTGGA MANE Select	ENSP00000373565.3:p.Ser287_Ala288insAspValAspLeuLeuSerGluValL...
ENST00000650760.1:c.1463_1464insTGATGTGGACCTGCTCAGCGAAGTGCTGGA	ENSP00000499217.1:p.Ser488_Ala489insAspValAspLeuLeuSerGluValL...
ENST00000388913.3:c.860_861insTGATGTGGACCTGCTCAGCGAAGTGCTGGA	ENSP00000373565.3:p.Ser287_Ala288insAspValAspLeuLeuSerGluValL...
ENST00000395103.2:c.40_41insTGATGTGGACCTGCTCAGCGAAGTGCTGGA
NM_198488.3:c.860_861insTGATGTGGACCTGCTCAGCGAAGTGCTGGA	NP_940890.3:p.Ser287_Ala288insAspValAspLeuLeuSerGluValLeuGlu
XM_005250887.2:c.917_918insTGATGTGGACCTGCTCAGCGAAGTGCTGGA	XP_005250944.1:p.Ser306_Ala307insAspValAspLeuLeuSerGluValLeuG...
XM_005250888.2:c.878_879insTGATGTGGACCTGCTCAGCGAAGTGCTGGA	XP_005250945.1:p.Ser293_Ala294insAspValAspLeuLeuSerGluValLeuG...
XM_005250889.2:c.860_861insTGATGTGGACCTGCTCAGCGAAGTGCTGGA	XP_005250946.1:p.Ser287_Ala288insAspValAspLeuLeuSerGluValLeuG...
XM_011516980.1:c.1181_1182insTGATGTGGACCTGCTCAGCGAAGTGCTGGA	XP_011515282.1:p.Ser394_Ala395insAspValAspLeuLeuSerGluValLeuG...
XM_011516981.1:c.1028_1029insTGATGTGGACCTGCTCAGCGAAGTGCTGGA	XP_011515283.1:p.Ser343_Ala344insAspValAspLeuLeuSerGluValLeuG...
XM_005250887.3:c.917_918insTGATGTGGACCTGCTCAGCGAAGTGCTGGA	XP_005250944.1:p.Ser306_Ala307insAspValAspLeuLeuSerGluValLeuG...
XM_005250888.3:c.878_879insTGATGTGGACCTGCTCAGCGAAGTGCTGGA	XP_005250945.1:p.Ser293_Ala294insAspValAspLeuLeuSerGluValLeuG...
XM_005250889.3:c.860_861insTGATGTGGACCTGCTCAGCGAAGTGCTGGA	XP_005250946.1:p.Ser287_Ala288insAspValAspLeuLeuSerGluValLeuG...
XM_011516980.2:c.1463_1464insTGATGTGGACCTGCTCAGCGAAGTGCTGGA	XP_011515282.2:p.Ser488_Ala489insAspValAspLeuLeuSerGluValLeuG...
XM_011516981.2:c.1028_1029insTGATGTGGACCTGCTCAGCGAAGTGCTGGA	XP_011515283.1:p.Ser343_Ala344insAspValAspLeuLeuSerGluValLeuG...
XM_024447131.1:c.860_861insTGATGTGGACCTGCTCAGCGAAGTGCTGGA	XP_024302899.1:p.Ser287_Ala288insAspValAspLeuLeuSerGluValLeuG...
NM_198488.4:c.860_861insTGATGTGGACCTGCTCAGCGAAGTGCTGGA	NP_940890.3:p.Ser287_Ala288insAspValAspLeuLeuSerGluValLeuGlu
NM_198488.5:c.860_861insTGATGTGGACCTGCTCAGCGAAGTGCTGGA MANE Select	NP_940890.4:p.Ser287_Ala288insAspValAspLeuLeuSerGluValLeuGlu