Canonical Allele Identifier: CA263575

Gene: AMT

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49420217_49420231del , CM000665.2:g.49420217_49420231del	GRCh38
NC_000003.11:g.49457650_49457664del , CM000665.1:g.49457650_49457664del	GRCh37
NC_000003.10:g.49432654_49432668del	NCBI36
NG_015986.1:g.7449_7463del , LRG_537:g.7449_7463del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.452_466del MANE Select	ENSP00000273588.3:p.Lys151_Leu155del
ENST00000395338.7:c.452_466del	ENSP00000378747.2:p.Lys151_Leu155del
ENST00000399379.7:c.254_268del	ENSP00000399943.2:p.Lys85_Leu89del
ENST00000427987.6:c.308_322del	ENSP00000403821.2:p.Lys103_Leu107del
ENST00000430521.2:c.*254_*268del	ENSP00000388068.2:n.*254_*268del
ENST00000462048.2:c.161_175del	ENSP00000490465.1:p.Lys54_Leu58del
ENST00000465925.6:n.1620_1634del
ENST00000473163.2:n.2234_2248del
ENST00000476127.6:n.329_343del
ENST00000476226.6:n.451_465del
ENST00000476828.2:n.425_439del
ENST00000478594.6:n.457_471del
ENST00000480957.6:n.1619_1633del
ENST00000485108.6:n.582_596del
ENST00000487589.6:n.365_379del
ENST00000491800.3:n.2243_2257del
ENST00000493046.6:n.2229_2243del
ENST00000538581.6:c.308_322del	ENSP00000443200.2:p.Lys103_Leu107del
ENST00000635772.1:n.456_470del
ENST00000635808.1:c.371_385del	ENSP00000489620.1:p.Lys124_Leu128del
ENST00000635889.1:n.461_475del
ENST00000635936.1:n.444_458del
ENST00000636023.1:c.452_466del	ENSP00000489969.1:p.Lys151_Leu155del
ENST00000636070.1:c.*232_*246del	ENSP00000490160.1:n.*232_*246del
ENST00000636148.1:n.1671_1685del
ENST00000636166.1:c.689_703del	ENSP00000490106.1:p.Lys230_Leu234del
ENST00000636199.1:c.259-1079_259-1065del	ENSP00000490871.1:n.259-1079_259-1065del
ENST00000636204.1:n.1734_1748del
ENST00000636461.1:c.3564_3578del
ENST00000636522.1:c.284_298del	ENSP00000489758.1:p.Lys95_Leu99del
ENST00000636587.1:n.684_698del
ENST00000636597.1:c.452_466del	ENSP00000490251.1:p.Lys151_Leu155del
ENST00000636725.1:n.442_456del
ENST00000636803.1:n.442_456del
ENST00000636865.1:c.308_322del	ENSP00000490601.1:p.Lys103_Leu107del
ENST00000636871.1:n.395_409del
ENST00000636978.1:n.456_470del
ENST00000636991.1:n.475_489del
ENST00000637059.1:c.70-442_70-428del	ENSP00000490153.1:n.70-442_70-428del
ENST00000637088.1:n.4538_4552del
ENST00000637114.1:n.444_458del
ENST00000637268.1:n.457_471del
ENST00000637291.1:n.460_474del
ENST00000637442.1:n.1947_1961del
ENST00000637455.1:c.263_277del	ENSP00000489628.1:p.Lys88_Leu92del
ENST00000637457.1:n.479_493del
ENST00000637682.1:c.452_466del	ENSP00000489856.1:p.Lys151_Leu155del
ENST00000637684.1:n.554_568del
ENST00000637821.1:c.*232_*246del	ENSP00000490482.1:n.*232_*246del
ENST00000637914.1:n.1620_1634del
ENST00000637982.1:n.444_458del
ENST00000637994.1:n.462_476del
ENST00000638014.1:c.3233_3247del
ENST00000638063.1:c.371_385del	ENSP00000489760.1:p.Lys124_Leu128del
ENST00000638079.1:c.*968_*982del	ENSP00000490120.1:n.*968_*982del
ENST00000638092.1:n.442_456del
ENST00000638115.1:c.*2213_*2227del	ENSP00000490296.1:n.*2213_*2227del
ENST00000273588.7:c.452_466del	ENSP00000273588.3:p.Lys151_Leu155del
ENST00000395338.6:c.452_466del	ENSP00000378747.2:p.Lys151_Leu155del
ENST00000399379.6:c.*232_*246del	ENSP00000399943.1:n.*232_*246del
ENST00000427987.5:c.444_458del
ENST00000430521.1:c.284_298del	ENSP00000388068.1:p.Lys95_Leu99del
ENST00000458307.6:c.340-442_340-428del	ENSP00000415619.2:n.340-442_340-428del
ENST00000461210.1:n.634_648del
ENST00000462048.1:n.509_523del
ENST00000465925.5:n.916_930del
ENST00000476226.5:n.517_531del
ENST00000476828.1:n.425_439del
ENST00000478594.5:n.446_460del
ENST00000480957.5:n.460_474del
ENST00000485108.5:n.446_460del
ENST00000487589.5:n.554_568del
ENST00000493046.5:n.353_367del
ENST00000495436.5:n.430-442_430-428del
ENST00000538581.5:c.284_298del	ENSP00000443200.1:p.Lys95_Leu99del
NM_000481.3:c.452_466del , LRG_537t1:c.452_466del	NP_000472.2:p.Lys151_Leu155del
NM_001164710.1:c.340-442_340-428del	NP_001158182.1:n.340-442_340-428del
NM_001164711.1:c.284_298del	NP_001158183.1:p.Lys95_Leu99del
NM_001164712.1:c.452_466del	NP_001158184.1:p.Lys151_Leu155del
NR_028435.1:n.666_680del
NM_000481.4:c.452_466del MANE Select	NP_000472.2:p.Lys151_Leu155del
NM_001164710.2:c.340-442_340-428del	NP_001158182.1:n.340-442_340-428del
NM_001164711.2:c.284_298del	NP_001158183.1:p.Lys95_Leu99del
NM_001164712.2:c.452_466del	NP_001158184.1:p.Lys151_Leu155del
NR_028435.2:n.461_475del