Canonical Allele Identifier: CA1120207142

Gene: FAM83H

Linked Data

• gnomAD v3: 8-143728259-TGCCGCGCCTGGAAGAAGCCCCGCGCGCCCGCGAGCTCCCCAGCCGGCCCGGCCTCGGCCTCCAGGC-T
• gnomAD v4: 8-143728259-TGCCGCGCCTGGAAGAAGCCCCGCGCGCCCGCGAGCTCCCCAGCCGGCCCGGCCTCGGCCTCCAGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728266_143728331del , CM000670.2:g.143728266_143728331del	GRCh38
NC_000008.10:g.144810436_144810501del , CM000670.1:g.144810436_144810501del	GRCh37
NC_000008.9:g.144882424_144882489del	NCBI36
NG_016652.1:g.10420_10485del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.1136_1201del MANE Select	ENSP00000373565.3:p.Arg379_Arg400del
ENST00000650760.1:c.1739_1804del	ENSP00000499217.1:p.Arg580_Arg601del
ENST00000388913.3:c.1136_1201del	ENSP00000373565.3:p.Arg379_Arg400del
ENST00000395103.2:c.316_381del
NM_198488.3:c.1136_1201del	NP_940890.3:p.Arg379_Arg400del
XM_005250887.2:c.1193_1258del	XP_005250944.1:p.Arg398_Arg419del
XM_005250888.2:c.1154_1219del	XP_005250945.1:p.Arg385_Arg406del
XM_005250889.2:c.1136_1201del	XP_005250946.1:p.Arg379_Arg400del
XM_011516980.1:c.1457_1522del	XP_011515282.1:p.Arg486_Arg507del
XM_011516981.1:c.1304_1369del	XP_011515283.1:p.Arg435_Arg456del
XM_005250887.3:c.1193_1258del	XP_005250944.1:p.Arg398_Arg419del
XM_005250888.3:c.1154_1219del	XP_005250945.1:p.Arg385_Arg406del
XM_005250889.3:c.1136_1201del	XP_005250946.1:p.Arg379_Arg400del
XM_011516980.2:c.1739_1804del	XP_011515282.2:p.Arg580_Arg601del
XM_011516981.2:c.1304_1369del	XP_011515283.1:p.Arg435_Arg456del
XM_024447131.1:c.1136_1201del	XP_024302899.1:p.Arg379_Arg400del
NM_198488.4:c.1136_1201del	NP_940890.3:p.Arg379_Arg400del
NM_198488.5:c.1136_1201del MANE Select	NP_940890.4:p.Arg379_Arg400del