Canonical Allele Identifier: CA122051

Linked Data

ClinVar Variation Id: 12271
ClinVar RCV Id: RCV000013059
dbSNP Id: rs587776762

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233760795_233760797del , CM000664.2:g.233760795_233760797del GRCh38
NC_000002.11:g.234669441_234669443del , CM000664.1:g.234669441_234669443del GRCh37
NC_000002.10:g.234334180_234334182del NCBI36
NG_002601.2:g.176052_176054del
NG_033238.1:g.5523_5525del , LRG_733:g.5523_5525del

Transcript Alleles

HGVS Amino-acid change
NM_000463.2:c.508_510del , LRG_733t1:c.508_510del (UGT1A1) NP_000454.1:p.Phe171del
NM_001072.3:c.862-6239_862-6237del (UGT1A6) NP_001063.2:p.=
NM_007120.2:c.868-6239_868-6237del (UGT1A4) NP_009051.1:p.=
NM_019075.2:c.856-6239_856-6237del (UGT1A10) NP_061948.1:p.=
NM_019076.4:c.856-6239_856-6237del (UGT1A8) NP_061949.3:p.=
NM_019077.2:n.856-6239_856-6237del (UGT1A7) NP_061950.2:p.=
NM_019078.1:n.868-6239_868-6237del (UGT1A5) NP_061951.1:p.=
NM_019093.2:n.868-6239_868-6237del (UGT1A3) NP_061966.1:p.=
NM_021027.2:c.856-6239_856-6237del (UGT1A9) NP_066307.1:p.=
NM_205862.1:c.61-6239_61-6237del (UGT1A6) NP_995584.1:p.=
NM_001072.4:c.862-6239_862-6237del (UGT1A6) NP_001063.2:p.=
NM_021027.3:c.856-6239_856-6237del (UGT1A9) NP_066307.1:p.=
NM_000463.3:c.508_510del (UGT1A1) NP_000454.1:p.Phe171del
NM_007120.3:c.868-6239_868-6237del (UGT1A4) NP_009051.1:p.=
NM_019093.4:c.868-6239_868-6237del (UGT1A3) NP_061966.1:p.=
NM_205862.2:c.61-6239_61-6237del (UGT1A6) NP_995584.1:p.=
NM_019076.5:c.856-6239_856-6237del (UGT1A8) NP_061949.3:p.=
NM_019077.3:c.856-6239_856-6237del (UGT1A7) NP_061950.2:p.=
NM_019078.2:c.868-6239_868-6237del (UGT1A5) NP_061951.1:p.=
ENST00000305139.10:c.862-6239_862-6237del ENSP00000303174.6:p.=
ENST00000305208.9:c.508_510del ENSP00000304845.5:p.Phe171del
ENST00000344644.9:c.856-6239_856-6237del ENSP00000343838.5:p.=
ENST00000354728.4:c.856-6239_856-6237del ENSP00000346768.4:p.=
ENST00000360418.4:n.508_510del ENSP00000353593.3:p.Phe171del
ENST00000373409.7:c.868-6239_868-6237del ENSP00000362508.3:p.=
ENST00000373414.3:n.868-6239_868-6237del ENSP00000362513.3:p.=
ENST00000373424.5:c.61-6239_61-6237del ENSP00000362523.1:p.=
ENST00000373426.3:n.856-6239_856-6237del ENSP00000362525.3:p.=
ENST00000373445.1:c.856-6239_856-6237del ENSP00000362544.1:p.=
ENST00000373450.4:c.856-6239_856-6237del ENSP00000362549.4:p.=
ENST00000406651.1:c.61-6239_61-6237del ENSP00000386107.1:p.=
ENST00000446481.6:c.61-6239_61-6237del ENSP00000401541.1:p.=
ENST00000450233.1:n.868-6239_868-6237del ENSP00000408608.1:p.=
ENST00000482026.5:c.868-6239_868-6237del ENSP00000418532.1:p.=
ENST00000484784.2:n.442-6239_442-6237del ENSP00000419780.2:p.=