Canonical Allele Identifier: CA2665730264

Gene: AMT

Linked Data

• gnomAD v4: 3-49418047-CAAGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49418050_49418053del , CM000665.2:g.49418050_49418053del	GRCh38
NC_000003.11:g.49455483_49455486del , CM000665.1:g.49455483_49455486del	GRCh37
NC_000003.10:g.49430487_49430490del	NCBI36
NG_015986.1:g.9628_9631del , LRG_537:g.9628_9631del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.878-78_878-75del MANE Select	ENSP00000273588.3:n.878-78_878-75del
ENST00000395338.7:c.878-78_878-75del	ENSP00000378747.2:n.878-78_878-75del
ENST00000399379.7:c.610-78_610-75del	ENSP00000399943.2:n.610-78_610-75del
ENST00000427987.6:c.734-78_734-75del	ENSP00000403821.2:n.734-78_734-75del
ENST00000465925.6:n.2880-78_2880-75del
ENST00000473163.2:n.3494-78_3494-75del
ENST00000476127.6:n.1107-78_1107-75del
ENST00000476226.6:n.1299-78_1299-75del
ENST00000478594.6:n.1305-78_1305-75del
ENST00000493046.6:n.2750-333_2750-330del
ENST00000538581.6:c.734-78_734-75del	ENSP00000443200.2:n.734-78_734-75del
ENST00000635772.1:n.1716-78_1716-75del
ENST00000635798.1:n.392-333_392-330del
ENST00000635808.1:c.797-78_797-75del	ENSP00000489620.1:n.797-78_797-75del
ENST00000635889.1:n.1371-78_1371-75del
ENST00000635907.1:n.592-333_592-330del
ENST00000635936.1:n.1146-78_1146-75del
ENST00000636023.1:c.*51-78_*51-75del	ENSP00000489969.1:n.*51-78_*51-75del
ENST00000636070.1:c.*658-78_*658-75del	ENSP00000490160.1:n.*658-78_*658-75del
ENST00000636148.1:n.2931-78_2931-75del
ENST00000636166.1:c.1115-78_1115-75del	ENSP00000490106.1:n.1115-78_1115-75del
ENST00000636188.1:c.57-78_57-75del
ENST00000636199.1:c.440-78_440-75del	ENSP00000490871.1:n.440-78_440-75del
ENST00000636204.1:n.2160-78_2160-75del
ENST00000636461.1:c.4412-78_4412-75del
ENST00000636522.1:c.710-78_710-75del	ENSP00000489758.1:n.710-78_710-75del
ENST00000636587.1:n.964-78_964-75del
ENST00000636594.1:n.322_325del
ENST00000636597.1:c.551-333_551-330del	ENSP00000490251.1:n.551-333_551-330del
ENST00000636725.1:n.1594-78_1594-75del
ENST00000636803.1:n.1220-78_1220-75del
ENST00000636865.1:c.722-78_722-75del	ENSP00000490601.1:n.722-78_722-75del
ENST00000636871.1:n.1243-78_1243-75del
ENST00000636978.1:n.990-78_990-75del
ENST00000636991.1:n.1323-78_1323-75del
ENST00000637059.1:c.330-78_330-75del	ENSP00000490153.1:n.330-78_330-75del
ENST00000637088.1:n.5690-78_5690-75del
ENST00000637114.1:n.978-78_978-75del
ENST00000637268.1:n.1779-78_1779-75del
ENST00000637291.1:n.1612-78_1612-75del
ENST00000637442.1:n.3099-78_3099-75del
ENST00000637455.1:c.689-78_689-75del	ENSP00000489628.1:n.689-78_689-75del
ENST00000637457.1:n.1739-78_1739-75del
ENST00000637527.1:n.92_95del
ENST00000637682.1:c.878-333_878-330del	ENSP00000489856.1:n.878-333_878-330del
ENST00000637684.1:n.1088-78_1088-75del
ENST00000637821.1:c.*1188-78_*1188-75del	ENSP00000490482.1:n.*1188-78_*1188-75del
ENST00000637914.1:n.2772-78_2772-75del
ENST00000637982.1:n.1292-78_1292-75del
ENST00000637994.1:n.1418-78_1418-75del
ENST00000638014.1:c.3659-78_3659-75del
ENST00000638063.1:c.797-78_797-75del	ENSP00000489760.1:n.797-78_797-75del
ENST00000638079.1:c.*1390-78_*1390-75del	ENSP00000490120.1:n.*1390-78_*1390-75del
ENST00000638092.1:n.1398-78_1398-75del
ENST00000638115.1:c.*2639-78_*2639-75del	ENSP00000490296.1:n.*2639-78_*2639-75del
ENST00000273588.7:c.878-78_878-75del	ENSP00000273588.3:n.878-78_878-75del
ENST00000395338.6:c.878-78_878-75del	ENSP00000378747.2:n.878-78_878-75del
ENST00000399379.6:c.*658-78_*658-75del	ENSP00000399943.1:n.*658-78_*658-75del
ENST00000427987.5:c.870-78_870-75del
ENST00000430521.1:c.710-78_710-75del	ENSP00000388068.1:n.710-78_710-75del
ENST00000458307.6:c.746-78_746-75del	ENSP00000415619.2:n.746-78_746-75del
ENST00000465925.5:n.2176-78_2176-75del
ENST00000473163.1:n.247-78_247-75del
ENST00000476127.5:n.637-78_637-75del
ENST00000476226.5:n.943-78_943-75del
ENST00000495436.5:n.655-333_655-330del
ENST00000538581.5:c.710-78_710-75del	ENSP00000443200.1:n.710-78_710-75del
NM_000481.3:c.878-78_878-75del , LRG_537t1:c.878-78_878-75del	NP_000472.2:n.878-78_878-75del
NM_001164710.1:c.746-78_746-75del	NP_001158182.1:n.746-78_746-75del
NM_001164711.1:c.710-78_710-75del	NP_001158183.1:n.710-78_710-75del
NM_001164712.1:c.878-78_878-75del	NP_001158184.1:n.878-78_878-75del
NR_028435.1:n.1092-78_1092-75del
NM_000481.4:c.878-78_878-75del MANE Select	NP_000472.2:n.878-78_878-75del
NM_001164710.2:c.746-78_746-75del	NP_001158182.1:n.746-78_746-75del
NM_001164711.2:c.710-78_710-75del	NP_001158183.1:n.710-78_710-75del
NM_001164712.2:c.878-78_878-75del	NP_001158184.1:n.878-78_878-75del
NR_028435.2:n.887-78_887-75del