Canonical Allele Identifier: CA2830536984

Gene: UGT2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.69639827_69639828insT , CM000666.2:g.69639827_69639828insT	GRCh38
NC_000004.11:g.70505545_70505546insT , CM000666.1:g.70505545_70505546insT	GRCh37
NC_000004.10:g.70540134_70540135insT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286604.9:c.716-4006_716-4005insA MANE Select	ENSP00000286604.4:n.716-4006_716-4005insA
ENST00000286604.8:c.716-4006_716-4005insA	ENSP00000286604.4:n.716-4006_716-4005insA
ENST00000503640.5:c.715+7102_715+7103insA	ENSP00000424478.1:n.715+7102_715+7103insA
ENST00000512704.5:c.715+7102_715+7103insA	ENSP00000421432.1:n.715+7102_715+7103insA
ENST00000514019.1:c.716-300_716-299insA	ENSP00000425497.1:n.716-300_716-299insA
NM_001252274.2:c.716-300_716-299insA	NP_001239203.2:n.716-300_716-299insA
NM_001252275.2:c.716-4006_716-4005insA	NP_001239204.2:n.716-4006_716-4005insA
NM_001301239.1:c.715+7102_715+7103insA	NP_001288168.1:n.715+7102_715+7103insA
NM_006798.4:c.715+7102_715+7103insA	NP_006789.3:n.715+7102_715+7103insA
NM_001252274.3:c.716-300_716-299insA	NP_001239203.2:n.716-300_716-299insA
NM_001252275.3:c.716-4006_716-4005insA MANE Select	NP_001239204.2:n.716-4006_716-4005insA
NM_006798.5:c.715+7102_715+7103insA	NP_006789.3:n.715+7102_715+7103insA
NM_001301239.2:c.715+7102_715+7103insA	NP_001288168.1:n.715+7102_715+7103insA
NM_001389565.1:c.716-300_716-299insA	NP_001376494.1:n.716-300_716-299insA