Canonical Allele Identifier: CA1363482247

Gene: AMT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49422196_49422197delinsTC , CM000665.2:g.49422196_49422197delinsTC	GRCh38
NC_000003.11:g.49459629_49459630delinsTC , CM000665.1:g.49459629_49459630delinsTC	GRCh37
NC_000003.10:g.49434633_49434634delinsTC	NCBI36
NG_015986.1:g.5482_5483delinsGA , LRG_537:g.5482_5483delinsGA
NG_033046.1:g.12128_12129delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.165_166delinsGA MANE Select	ENSP00000273588.3:p.Trp55=
ENST00000395338.7:c.165_166delinsGA	ENSP00000378747.2:p.Trp55=
ENST00000399379.7:c.60+164_60+165delinsGA	ENSP00000399943.2:n.60+164_60+165delinsGA
ENST00000427987.6:c.21_22delinsGA	ENSP00000403821.2:p.Trp7=
ENST00000430521.2:c.91-148_91-147delinsGA	ENSP00000388068.2:n.91-148_91-147delinsGA
ENST00000462048.2:c.-101-148_-101-147delinsGA	ENSP00000490465.1:n.-101-148_-101-147delinsGA
ENST00000465925.6:n.184_185delinsGA
ENST00000473163.2:n.267_268delinsGA
ENST00000476127.6:n.42_43delinsGA
ENST00000476226.6:n.164_165delinsGA
ENST00000478594.6:n.170_171delinsGA
ENST00000480957.6:n.183_184delinsGA
ENST00000485108.6:n.295_296delinsGA
ENST00000487589.6:n.78_79delinsGA
ENST00000491800.3:n.276_277delinsGA
ENST00000493046.6:n.262_263delinsGA
ENST00000538581.6:c.21_22delinsGA	ENSP00000443200.2:p.Trp7=
ENST00000635772.1:n.169_170delinsGA
ENST00000635808.1:c.165_166delinsGA	ENSP00000489620.1:p.Trp55=
ENST00000635889.1:n.174_175delinsGA
ENST00000635936.1:n.157_158delinsGA
ENST00000636023.1:c.165_166delinsGA	ENSP00000489969.1:p.Trp55=
ENST00000636070.1:c.91-148_91-147delinsGA	ENSP00000490160.1:n.91-148_91-147delinsGA
ENST00000636148.1:n.235_236delinsGA
ENST00000636166.1:c.496-625_496-624delinsGA	ENSP00000490106.1:n.496-625_496-624delinsGA
ENST00000636199.1:c.165_166delinsGA	ENSP00000490871.1:p.Trp55=
ENST00000636204.1:n.1447_1448delinsGA
ENST00000636461.1:c.3277_3278delinsGA
ENST00000636522.1:c.90+164_90+165delinsGA	ENSP00000489758.1:n.90+164_90+165delinsGA
ENST00000636587.1:n.397_398delinsGA
ENST00000636597.1:c.165_166delinsGA	ENSP00000490251.1:p.Trp55=
ENST00000636725.1:n.155_156delinsGA
ENST00000636803.1:n.155_156delinsGA
ENST00000636865.1:c.21_22delinsGA	ENSP00000490601.1:p.Trp7=
ENST00000636871.1:n.108_109delinsGA
ENST00000636978.1:n.169_170delinsGA
ENST00000636991.1:n.188_189delinsGA
ENST00000637088.1:n.3720_3721delinsGA
ENST00000637114.1:n.157_158delinsGA
ENST00000637268.1:n.170_171delinsGA
ENST00000637291.1:n.173_174delinsGA
ENST00000637442.1:n.1660_1661delinsGA
ENST00000637457.1:n.192_193delinsGA
ENST00000637682.1:c.165_166delinsGA	ENSP00000489856.1:p.Trp55=
ENST00000637684.1:n.267_268delinsGA
ENST00000637821.1:c.91-148_91-147delinsGA	ENSP00000490482.1:n.91-148_91-147delinsGA
ENST00000637914.1:n.184_185delinsGA
ENST00000637982.1:n.157_158delinsGA
ENST00000637994.1:n.175_176delinsGA
ENST00000638014.1:c.2946_2947delinsGA
ENST00000638063.1:c.165_166delinsGA	ENSP00000489760.1:p.Trp55=
ENST00000638079.1:c.*681_*682delinsGA	ENSP00000490120.1:n.*681_*682delinsGA
ENST00000638092.1:n.155_156delinsGA
ENST00000638115.1:c.*1926_*1927delinsGA	ENSP00000490296.1:n.*1926_*1927delinsGA
ENST00000273588.7:c.165_166delinsGA	ENSP00000273588.3:p.Trp55=
ENST00000395338.6:c.165_166delinsGA	ENSP00000378747.2:p.Trp55=
ENST00000399379.6:c.91-148_91-147delinsGA	ENSP00000399943.1:n.91-148_91-147delinsGA
ENST00000427987.5:c.157_158delinsGA
ENST00000430521.1:c.90+164_90+165delinsGA	ENSP00000388068.1:n.90+164_90+165delinsGA
ENST00000458307.6:c.165_166delinsGA	ENSP00000415619.2:p.Trp55=
ENST00000462048.1:n.248-148_248-147delinsGA
ENST00000476226.5:n.230_231delinsGA
ENST00000478594.5:n.159_160delinsGA
ENST00000480957.5:n.173_174delinsGA
ENST00000485108.5:n.159_160delinsGA
ENST00000487589.5:n.267_268delinsGA
ENST00000493046.5:n.92-148_92-147delinsGA
ENST00000495436.5:n.255_256delinsGA
ENST00000498571.1:n.163_164delinsGA
ENST00000538581.5:c.90+164_90+165delinsGA	ENSP00000443200.1:n.90+164_90+165delinsGA
NM_000481.3:c.165_166delinsGA , LRG_537t1:c.165_166delinsGA	NP_000472.2:p.Trp55=
NM_001164710.1:c.165_166delinsGA	NP_001158182.1:p.Trp55=
NM_001164711.1:c.90+164_90+165delinsGA	NP_001158183.1:n.90+164_90+165delinsGA
NM_001164712.1:c.165_166delinsGA	NP_001158184.1:p.Trp55=
NR_028435.1:n.379_380delinsGA
NM_000481.4:c.165_166delinsGA MANE Select	NP_000472.2:p.Trp55=
NM_001164710.2:c.165_166delinsGA	NP_001158182.1:p.Trp55=
NM_001164711.2:c.90+164_90+165delinsGA	NP_001158183.1:n.90+164_90+165delinsGA
NM_001164712.2:c.165_166delinsGA	NP_001158184.1:p.Trp55=
NR_028435.2:n.174_175delinsGA