Canonical Allele Identifier: CA2582342856

Gene: AMT

Linked Data

• ClinVar Variation Id: 2581425
• ClinVar RCV Id: RCV003331830

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49417892_49417897delinsTGCCTT , CM000665.2:g.49417892_49417897delinsTGCCTT	GRCh38
NC_000003.11:g.49455325_49455330delinsTGCCTT , CM000665.1:g.49455325_49455330delinsTGCCTT	GRCh37
NC_000003.10:g.49430329_49430334delinsTGCCTT	NCBI36
NG_015986.1:g.9782_9787delinsAAGGCA , LRG_537:g.9782_9787delinsAAGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.954_959delinsAAGGCA MANE Select	ENSP00000273588.3:p.Arg320His
ENST00000395338.7:c.954_959delinsAAGGCA	ENSP00000378747.2:p.Arg320His
ENST00000399379.7:c.686_691delinsAAGGCA	ENSP00000399943.2:n.686_691delinsAAGGCA
ENST00000427987.6:c.810_815delinsAAGGCA	ENSP00000403821.2:p.Arg272His
ENST00000465925.6:n.2956_2961delinsAAGGCA
ENST00000473163.2:n.3570_3575delinsAAGGCA
ENST00000476127.6:n.1183_1188delinsAAGGCA
ENST00000476226.6:n.1375_1380delinsAAGGCA
ENST00000478594.6:n.1381_1386delinsAAGGCA
ENST00000493046.6:n.2750-179_2750-174delinsAAGGCA
ENST00000538581.6:c.810_815delinsAAGGCA	ENSP00000443200.2:p.Arg272His
ENST00000635772.1:n.1792_1797delinsAAGGCA
ENST00000635798.1:n.392-179_392-174delinsAAGGCA
ENST00000635808.1:c.873_878delinsAAGGCA	ENSP00000489620.1:p.Arg293His
ENST00000635889.1:n.1447_1452delinsAAGGCA
ENST00000635907.1:n.592-179_592-174delinsAAGGCA
ENST00000635936.1:n.1222_1227delinsAAGGCA
ENST00000636023.1:c.*127_*132delinsAAGGCA	ENSP00000489969.1:n.*127_*132delinsAAGGCA
ENST00000636070.1:c.*734_*739delinsAAGGCA	ENSP00000490160.1:n.*734_*739delinsAAGGCA
ENST00000636148.1:n.3007_3012delinsAAGGCA
ENST00000636166.1:c.1191_1196delinsAAGGCA	ENSP00000490106.1:p.Arg399His
ENST00000636188.1:c.133_138delinsAAGGCA
ENST00000636199.1:c.516_521delinsAAGGCA	ENSP00000490871.1:p.Arg174His
ENST00000636204.1:n.2236_2241delinsAAGGCA
ENST00000636461.1:c.4488_4493delinsAAGGCA
ENST00000636522.1:c.786_791delinsAAGGCA	ENSP00000489758.1:p.Arg264His
ENST00000636587.1:n.1040_1045delinsAAGGCA
ENST00000636594.1:n.476_481delinsAAGGCA
ENST00000636597.1:c.551-179_551-174delinsAAGGCA	ENSP00000490251.1:n.551-179_551-174delinsAAGGCA
ENST00000636725.1:n.1670_1675delinsAAGGCA
ENST00000636803.1:n.1296_1301delinsAAGGCA
ENST00000636865.1:c.798_803delinsAAGGCA	ENSP00000490601.1:p.Arg268His
ENST00000636871.1:n.1319_1324delinsAAGGCA
ENST00000636978.1:n.1066_1071delinsAAGGCA
ENST00000636991.1:n.1399_1404delinsAAGGCA
ENST00000637059.1:c.406_411delinsAAGGCA	ENSP00000490153.1:n.406_411delinsAAGGCA
ENST00000637088.1:n.5766_5771delinsAAGGCA
ENST00000637114.1:n.1054_1059delinsAAGGCA
ENST00000637268.1:n.1855_1860delinsAAGGCA
ENST00000637291.1:n.1688_1693delinsAAGGCA
ENST00000637442.1:n.3175_3180delinsAAGGCA
ENST00000637455.1:c.765_770delinsAAGGCA	ENSP00000489628.1:p.Arg257His
ENST00000637457.1:n.1815_1820delinsAAGGCA
ENST00000637527.1:n.246_251delinsAAGGCA
ENST00000637682.1:c.878-179_878-174delinsAAGGCA	ENSP00000489856.1:n.878-179_878-174delinsAAGGCA
ENST00000637684.1:n.1164_1169delinsAAGGCA
ENST00000637821.1:c.*1228+36_*1228+41delinsAAGGCA	ENSP00000490482.1:n.*1228+36_*1228+41delinsAAGGCA
ENST00000637914.1:n.2848_2853delinsAAGGCA
ENST00000637982.1:n.1368_1373delinsAAGGCA
ENST00000637994.1:n.1494_1499delinsAAGGCA
ENST00000638014.1:c.3735_3740delinsAAGGCA
ENST00000638063.1:c.873_878delinsAAGGCA	ENSP00000489760.1:p.Arg293His
ENST00000638079.1:c.*1466_*1471delinsAAGGCA	ENSP00000490120.1:n.*1466_*1471delinsAAGGCA
ENST00000638092.1:n.1474_1479delinsAAGGCA
ENST00000638115.1:c.*2715_*2720delinsAAGGCA	ENSP00000490296.1:n.*2715_*2720delinsAAGGCA
ENST00000273588.7:c.954_959delinsAAGGCA	ENSP00000273588.3:p.Arg320His
ENST00000395338.6:c.954_959delinsAAGGCA	ENSP00000378747.2:p.Arg320His
ENST00000399379.6:c.*734_*739delinsAAGGCA	ENSP00000399943.1:n.*734_*739delinsAAGGCA
ENST00000427987.5:c.946_951delinsAAGGCA
ENST00000458307.6:c.822_827delinsAAGGCA	ENSP00000415619.2:p.Arg276His
ENST00000465925.5:n.2252_2257delinsAAGGCA
ENST00000473163.1:n.323_328delinsAAGGCA
ENST00000476127.5:n.713_718delinsAAGGCA
ENST00000476226.5:n.1019_1024delinsAAGGCA
ENST00000495436.5:n.655-179_655-174delinsAAGGCA
ENST00000538581.5:c.786_791delinsAAGGCA	ENSP00000443200.1:p.Arg264His
NM_000481.3:c.954_959delinsAAGGCA , LRG_537t1:c.954_959delinsAAGGCA	NP_000472.2:p.Arg320His
NM_001164710.1:c.822_827delinsAAGGCA	NP_001158182.1:p.Arg276His
NM_001164711.1:c.786_791delinsAAGGCA	NP_001158183.1:p.Arg264His
NM_001164712.1:c.954_959delinsAAGGCA	NP_001158184.1:p.Arg320His
NR_028435.1:n.1168_1173delinsAAGGCA
NM_000481.4:c.954_959delinsAAGGCA MANE Select	NP_000472.2:p.Arg320His
NM_001164710.2:c.822_827delinsAAGGCA	NP_001158182.1:p.Arg276His
NM_001164711.2:c.786_791delinsAAGGCA	NP_001158183.1:p.Arg264His
NM_001164712.2:c.954_959delinsAAGGCA	NP_001158184.1:p.Arg320His
NR_028435.2:n.963_968delinsAAGGCA