Canonical Allele Identifier: CA2398213

Gene: AMT

Linked Data

• ClinVar Variation Id: 1596015
• ClinVar RCV Id: RCV002113132
• dbSNP Id: rs759562642
• ExAC: 3:49455420 CAT / C
• gnomAD v2: 3-49455420-CAT-C
• gnomAD v3: 3-49417987-CAT-C
• gnomAD v4: 3-49417987-CAT-C
• MyVariant Identifiers: chr3:g.49455421_49455422del (hg19) ; chr3:g.49417988_49417989del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49417988_49417989del , CM000665.2:g.49417988_49417989del	GRCh38
NC_000003.11:g.49455421_49455422del , CM000665.1:g.49455421_49455422del	GRCh37
NC_000003.10:g.49430425_49430426del	NCBI36
NG_015986.1:g.9690_9691del , LRG_537:g.9690_9691del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.878-16_878-15del MANE Select	ENSP00000273588.3:n.878-16_878-15del
ENST00000395338.7:c.878-16_878-15del	ENSP00000378747.2:n.878-16_878-15del
ENST00000399379.7:c.610-16_610-15del	ENSP00000399943.2:n.610-16_610-15del
ENST00000427987.6:c.734-16_734-15del	ENSP00000403821.2:n.734-16_734-15del
ENST00000465925.6:n.2880-16_2880-15del
ENST00000473163.2:n.3494-16_3494-15del
ENST00000476127.6:n.1107-16_1107-15del
ENST00000476226.6:n.1299-16_1299-15del
ENST00000478594.6:n.1305-16_1305-15del
ENST00000493046.6:n.2750-271_2750-270del
ENST00000538581.6:c.734-16_734-15del	ENSP00000443200.2:n.734-16_734-15del
ENST00000635772.1:n.1716-16_1716-15del
ENST00000635798.1:n.392-271_392-270del
ENST00000635808.1:c.797-16_797-15del	ENSP00000489620.1:n.797-16_797-15del
ENST00000635889.1:n.1371-16_1371-15del
ENST00000635907.1:n.592-271_592-270del
ENST00000635936.1:n.1146-16_1146-15del
ENST00000636023.1:c.*51-16_*51-15del	ENSP00000489969.1:n.*51-16_*51-15del
ENST00000636070.1:c.*658-16_*658-15del	ENSP00000490160.1:n.*658-16_*658-15del
ENST00000636148.1:n.2931-16_2931-15del
ENST00000636166.1:c.1115-16_1115-15del	ENSP00000490106.1:n.1115-16_1115-15del
ENST00000636188.1:c.57-16_57-15del
ENST00000636199.1:c.440-16_440-15del	ENSP00000490871.1:n.440-16_440-15del
ENST00000636204.1:n.2160-16_2160-15del
ENST00000636461.1:c.4412-16_4412-15del
ENST00000636522.1:c.710-16_710-15del	ENSP00000489758.1:n.710-16_710-15del
ENST00000636587.1:n.964-16_964-15del
ENST00000636594.1:n.384_385del
ENST00000636597.1:c.551-271_551-270del	ENSP00000490251.1:n.551-271_551-270del
ENST00000636725.1:n.1594-16_1594-15del
ENST00000636803.1:n.1220-16_1220-15del
ENST00000636865.1:c.722-16_722-15del	ENSP00000490601.1:n.722-16_722-15del
ENST00000636871.1:n.1243-16_1243-15del
ENST00000636978.1:n.990-16_990-15del
ENST00000636991.1:n.1323-16_1323-15del
ENST00000637059.1:c.330-16_330-15del	ENSP00000490153.1:n.330-16_330-15del
ENST00000637088.1:n.5690-16_5690-15del
ENST00000637114.1:n.978-16_978-15del
ENST00000637268.1:n.1779-16_1779-15del
ENST00000637291.1:n.1612-16_1612-15del
ENST00000637442.1:n.3099-16_3099-15del
ENST00000637455.1:c.689-16_689-15del	ENSP00000489628.1:n.689-16_689-15del
ENST00000637457.1:n.1739-16_1739-15del
ENST00000637527.1:n.154_155del
ENST00000637682.1:c.878-271_878-270del	ENSP00000489856.1:n.878-271_878-270del
ENST00000637684.1:n.1088-16_1088-15del
ENST00000637821.1:c.*1188-16_*1188-15del	ENSP00000490482.1:n.*1188-16_*1188-15del
ENST00000637914.1:n.2772-16_2772-15del
ENST00000637982.1:n.1292-16_1292-15del
ENST00000637994.1:n.1418-16_1418-15del
ENST00000638014.1:c.3659-16_3659-15del
ENST00000638063.1:c.797-16_797-15del	ENSP00000489760.1:n.797-16_797-15del
ENST00000638079.1:c.*1390-16_*1390-15del	ENSP00000490120.1:n.*1390-16_*1390-15del
ENST00000638092.1:n.1398-16_1398-15del
ENST00000638115.1:c.*2639-16_*2639-15del	ENSP00000490296.1:n.*2639-16_*2639-15del
ENST00000273588.7:c.878-16_878-15del	ENSP00000273588.3:n.878-16_878-15del
ENST00000395338.6:c.878-16_878-15del	ENSP00000378747.2:n.878-16_878-15del
ENST00000399379.6:c.*658-16_*658-15del	ENSP00000399943.1:n.*658-16_*658-15del
ENST00000427987.5:c.870-16_870-15del
ENST00000430521.1:c.710-16_710-15del	ENSP00000388068.1:n.710-16_710-15del
ENST00000458307.6:c.746-16_746-15del	ENSP00000415619.2:n.746-16_746-15del
ENST00000465925.5:n.2176-16_2176-15del
ENST00000473163.1:n.247-16_247-15del
ENST00000476127.5:n.637-16_637-15del
ENST00000476226.5:n.943-16_943-15del
ENST00000495436.5:n.655-271_655-270del
ENST00000538581.5:c.710-16_710-15del	ENSP00000443200.1:n.710-16_710-15del
NM_000481.3:c.878-16_878-15del , LRG_537t1:c.878-16_878-15del	NP_000472.2:n.878-16_878-15del
NM_001164710.1:c.746-16_746-15del	NP_001158182.1:n.746-16_746-15del
NM_001164711.1:c.710-16_710-15del	NP_001158183.1:n.710-16_710-15del
NM_001164712.1:c.878-16_878-15del	NP_001158184.1:n.878-16_878-15del
NR_028435.1:n.1092-16_1092-15del
NM_000481.4:c.878-16_878-15del MANE Select	NP_000472.2:n.878-16_878-15del
NM_001164710.2:c.746-16_746-15del	NP_001158182.1:n.746-16_746-15del
NM_001164711.2:c.710-16_710-15del	NP_001158183.1:n.710-16_710-15del
NM_001164712.2:c.878-16_878-15del	NP_001158184.1:n.878-16_878-15del
NR_028435.2:n.887-16_887-15del