Canonical Allele Identifier: CA2665730095

Gene: AMT

Linked Data

• gnomAD v4: 3-49417791-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49417793_49417794del , CM000665.2:g.49417793_49417794del	GRCh38
NC_000003.11:g.49455226_49455227del , CM000665.1:g.49455226_49455227del	GRCh37
NC_000003.10:g.49430230_49430231del	NCBI36
NG_015986.1:g.9886_9887del , LRG_537:g.9886_9887del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.1033+25_1033+26del MANE Select	ENSP00000273588.3:n.1033+25_1033+26del
ENST00000395338.7:c.1033+25_1033+26del	ENSP00000378747.2:n.1033+25_1033+26del
ENST00000399379.7:c.765+25_765+26del	ENSP00000399943.2:n.765+25_765+26del
ENST00000427987.6:c.889+25_889+26del	ENSP00000403821.2:n.889+25_889+26del
ENST00000465925.6:n.3035+25_3035+26del
ENST00000473163.2:n.3649+25_3649+26del
ENST00000476127.6:n.1262+25_1262+26del
ENST00000476226.6:n.1454+25_1454+26del
ENST00000478594.6:n.1460+25_1460+26del
ENST00000493046.6:n.2750-75_2750-74del
ENST00000538581.6:c.889+25_889+26del	ENSP00000443200.2:n.889+25_889+26del
ENST00000635772.1:n.1871+25_1871+26del
ENST00000635798.1:n.392-75_392-74del
ENST00000635808.1:c.952+25_952+26del	ENSP00000489620.1:n.952+25_952+26del
ENST00000635889.1:n.1526+25_1526+26del
ENST00000635907.1:n.592-75_592-74del
ENST00000635936.1:n.1301+25_1301+26del
ENST00000636023.1:c.*206+25_*206+26del	ENSP00000489969.1:n.*206+25_*206+26del
ENST00000636070.1:c.*813+25_*813+26del	ENSP00000490160.1:n.*813+25_*813+26del
ENST00000636148.1:n.3086+25_3086+26del
ENST00000636166.1:c.1270+25_1270+26del	ENSP00000490106.1:n.1270+25_1270+26del
ENST00000636188.1:c.212+25_212+26del
ENST00000636199.1:c.595+25_595+26del	ENSP00000490871.1:n.595+25_595+26del
ENST00000636204.1:n.2315+25_2315+26del
ENST00000636461.1:c.4567+25_4567+26del
ENST00000636522.1:c.865+25_865+26del	ENSP00000489758.1:n.865+25_865+26del
ENST00000636587.1:n.1119+25_1119+26del
ENST00000636594.1:n.580_581del
ENST00000636597.1:c.551-75_551-74del	ENSP00000490251.1:n.551-75_551-74del
ENST00000636725.1:n.1749+25_1749+26del
ENST00000636803.1:n.1375+25_1375+26del
ENST00000636865.1:c.877+25_877+26del	ENSP00000490601.1:n.877+25_877+26del
ENST00000636871.1:n.1398+25_1398+26del
ENST00000636978.1:n.1145+25_1145+26del
ENST00000636991.1:n.1478+25_1478+26del
ENST00000637059.1:c.485+25_485+26del	ENSP00000490153.1:n.485+25_485+26del
ENST00000637088.1:n.5845+25_5845+26del
ENST00000637114.1:n.1133+25_1133+26del
ENST00000637268.1:n.1934+25_1934+26del
ENST00000637291.1:n.1767+25_1767+26del
ENST00000637442.1:n.3254+25_3254+26del
ENST00000637455.1:c.844+25_844+26del	ENSP00000489628.1:n.844+25_844+26del
ENST00000637457.1:n.1894+25_1894+26del
ENST00000637527.1:n.325+25_325+26del
ENST00000637682.1:c.878-75_878-74del	ENSP00000489856.1:n.878-75_878-74del
ENST00000637684.1:n.1243+25_1243+26del
ENST00000637821.1:c.*1229-75_*1229-74del	ENSP00000490482.1:n.*1229-75_*1229-74del
ENST00000637914.1:n.2927+25_2927+26del
ENST00000637982.1:n.1447+25_1447+26del
ENST00000637994.1:n.1573+25_1573+26del
ENST00000638014.1:c.3814+25_3814+26del
ENST00000638063.1:c.952+25_952+26del	ENSP00000489760.1:n.952+25_952+26del
ENST00000638079.1:c.*1545+25_*1545+26del	ENSP00000490120.1:n.*1545+25_*1545+26del
ENST00000638092.1:n.1553+25_1553+26del
ENST00000638115.1:c.*2794+25_*2794+26del	ENSP00000490296.1:n.*2794+25_*2794+26del
ENST00000273588.7:c.1033+25_1033+26del	ENSP00000273588.3:n.1033+25_1033+26del
ENST00000395338.6:c.1033+25_1033+26del	ENSP00000378747.2:n.1033+25_1033+26del
ENST00000399379.6:c.*813+25_*813+26del	ENSP00000399943.1:n.*813+25_*813+26del
ENST00000427987.5:c.1025+25_1025+26del
ENST00000458307.6:c.901+25_901+26del	ENSP00000415619.2:n.901+25_901+26del
ENST00000465925.5:n.2331+25_2331+26del
ENST00000473163.1:n.402+25_402+26del
ENST00000476127.5:n.792+25_792+26del
ENST00000476226.5:n.1098+25_1098+26del
ENST00000495436.5:n.655-75_655-74del
ENST00000538581.5:c.865+25_865+26del	ENSP00000443200.1:n.865+25_865+26del
NM_000481.3:c.1033+25_1033+26del , LRG_537t1:c.1033+25_1033+26del	NP_000472.2:n.1033+25_1033+26del
NM_001164710.1:c.901+25_901+26del	NP_001158182.1:n.901+25_901+26del
NM_001164711.1:c.865+25_865+26del	NP_001158183.1:n.865+25_865+26del
NM_001164712.1:c.1033+25_1033+26del	NP_001158184.1:n.1033+25_1033+26del
NR_028435.1:n.1247+25_1247+26del
NM_000481.4:c.1033+25_1033+26del MANE Select	NP_000472.2:n.1033+25_1033+26del
NM_001164710.2:c.901+25_901+26del	NP_001158182.1:n.901+25_901+26del
NM_001164711.2:c.865+25_865+26del	NP_001158183.1:n.865+25_865+26del
NM_001164712.2:c.1033+25_1033+26del	NP_001158184.1:n.1033+25_1033+26del
NR_028435.2:n.1042+25_1042+26del