Canonical Allele Identifier: CA913102980

Gene: AMT

Linked Data

• MyVariant Identifiers: chr3:g.49459629_49459630del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49422196_49422197del , CM000665.2:g.49422196_49422197del	GRCh38
NC_000003.11:g.49459629_49459630del , CM000665.1:g.49459629_49459630del	GRCh37
NC_000003.10:g.49434633_49434634del	NCBI36
NG_015986.1:g.5483_5484del , LRG_537:g.5483_5484del
NG_033046.1:g.12129_12130del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.166_167del MANE Select	ENSP00000273588.3:p.Leu57AlafsTer10
ENST00000395338.7:c.166_167del	ENSP00000378747.2:p.Leu57AlafsTer10
ENST00000399379.7:c.60+165_60+166del	ENSP00000399943.2:n.60+165_60+166del
ENST00000427987.6:c.22_23del	ENSP00000403821.2:p.Leu9AlafsTer10
ENST00000430521.2:c.91-147_91-146del	ENSP00000388068.2:n.91-147_91-146del
ENST00000462048.2:c.-101-147_-101-146del	ENSP00000490465.1:n.-101-147_-101-146del
ENST00000465925.6:n.185_186del
ENST00000473163.2:n.268_269del
ENST00000476127.6:n.43_44del
ENST00000476226.6:n.165_166del
ENST00000478594.6:n.171_172del
ENST00000480957.6:n.184_185del
ENST00000485108.6:n.296_297del
ENST00000487589.6:n.79_80del
ENST00000491800.3:n.277_278del
ENST00000493046.6:n.263_264del
ENST00000538581.6:c.22_23del	ENSP00000443200.2:p.Leu9AlafsTer10
ENST00000635772.1:n.170_171del
ENST00000635808.1:c.166_167del	ENSP00000489620.1:p.Leu57AlafsTer10
ENST00000635889.1:n.175_176del
ENST00000635936.1:n.158_159del
ENST00000636023.1:c.166_167del	ENSP00000489969.1:p.Leu57AlafsTer10
ENST00000636070.1:c.91-147_91-146del	ENSP00000490160.1:n.91-147_91-146del
ENST00000636148.1:n.236_237del
ENST00000636166.1:c.496-624_496-623del	ENSP00000490106.1:n.496-624_496-623del
ENST00000636199.1:c.166_167del	ENSP00000490871.1:p.Leu57AlafsTer10
ENST00000636204.1:n.1448_1449del
ENST00000636461.1:c.3278_3279del
ENST00000636522.1:c.90+165_90+166del	ENSP00000489758.1:n.90+165_90+166del
ENST00000636587.1:n.398_399del
ENST00000636597.1:c.166_167del	ENSP00000490251.1:p.Leu57AlafsTer10
ENST00000636725.1:n.156_157del
ENST00000636803.1:n.156_157del
ENST00000636865.1:c.22_23del	ENSP00000490601.1:p.Leu9AlafsTer10
ENST00000636871.1:n.109_110del
ENST00000636978.1:n.170_171del
ENST00000636991.1:n.189_190del
ENST00000637088.1:n.3721_3722del
ENST00000637114.1:n.158_159del
ENST00000637268.1:n.171_172del
ENST00000637291.1:n.174_175del
ENST00000637442.1:n.1661_1662del
ENST00000637457.1:n.193_194del
ENST00000637682.1:c.166_167del	ENSP00000489856.1:p.Leu57AlafsTer10
ENST00000637684.1:n.268_269del
ENST00000637821.1:c.91-147_91-146del	ENSP00000490482.1:n.91-147_91-146del
ENST00000637914.1:n.185_186del
ENST00000637982.1:n.158_159del
ENST00000637994.1:n.176_177del
ENST00000638014.1:c.2947_2948del
ENST00000638063.1:c.166_167del	ENSP00000489760.1:p.Leu57AlafsTer10
ENST00000638079.1:c.*682_*683del	ENSP00000490120.1:n.*682_*683del
ENST00000638092.1:n.156_157del
ENST00000638115.1:c.*1927_*1928del	ENSP00000490296.1:n.*1927_*1928del
ENST00000273588.7:c.166_167del	ENSP00000273588.3:p.Leu57AlafsTer10
ENST00000395338.6:c.166_167del	ENSP00000378747.2:p.Leu57AlafsTer10
ENST00000399379.6:c.91-147_91-146del	ENSP00000399943.1:n.91-147_91-146del
ENST00000427987.5:c.158_159del
ENST00000430521.1:c.90+165_90+166del	ENSP00000388068.1:n.90+165_90+166del
ENST00000458307.6:c.166_167del	ENSP00000415619.2:p.Leu57AlafsTer10
ENST00000462048.1:n.248-147_248-146del
ENST00000476226.5:n.231_232del
ENST00000478594.5:n.160_161del
ENST00000480957.5:n.174_175del
ENST00000485108.5:n.160_161del
ENST00000487589.5:n.268_269del
ENST00000493046.5:n.92-147_92-146del
ENST00000495436.5:n.256_257del
ENST00000498571.1:n.164_165del
ENST00000538581.5:c.90+165_90+166del	ENSP00000443200.1:n.90+165_90+166del
NM_000481.3:c.166_167del , LRG_537t1:c.166_167del	NP_000472.2:p.Leu57AlafsTer10
NM_001164710.1:c.166_167del	NP_001158182.1:p.Leu57AlafsTer10
NM_001164711.1:c.90+165_90+166del	NP_001158183.1:n.90+165_90+166del
NM_001164712.1:c.166_167del	NP_001158184.1:p.Leu57AlafsTer10
NR_028435.1:n.380_381del
NM_000481.4:c.166_167del MANE Select	NP_000472.2:p.Leu57AlafsTer10
NM_001164710.2:c.166_167del	NP_001158182.1:p.Leu57AlafsTer10
NM_001164711.2:c.90+165_90+166del	NP_001158183.1:n.90+165_90+166del
NM_001164712.2:c.166_167del	NP_001158184.1:p.Leu57AlafsTer10
NR_028435.2:n.175_176del