Canonical Allele Identifier: CA2177915
Gene: UGT1A10 HGNC NCBI
UGT1A8 HGNC NCBI

Linked Data

dbSNP Id: rs779940478
ExAC: 2:234546073 TA / T
gnomAD v2: 2-234546073-TA-T
gnomAD v3: 2-233637427-TA-T
gnomAD v4: 2-233637427-TA-T
MyVariant Identifiers: chr2:g.234546074del (hg19) chr2:g.233637428del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233637433del , CM000664.2:g.233637433del GRCh38
NC_000002.11:g.234546079del , CM000664.1:g.234546079del GRCh37
NC_000002.10:g.234210818del NCBI36
NG_002601.2:g.52690del

Transcript Alleles

HGVS Amino-acid Change
ENST00000344644.10:c.855+56del (UGT1A10) MANE Select ENSP00000343838.5:n.855+56del
ENST00000373450.5:c.855+18871del (UGT1A8) MANE Select ENSP00000362549.4:n.855+18871del
ENST00000344644.9:c.855+56del (UGT1A10) ENSP00000343838.5:n.855+56del
ENST00000373445.1:c.855+56del (UGT1A10) ENSP00000362544.1:n.855+56del
ENST00000373450.4:c.855+18871del (UGT1A8) ENSP00000362549.4:n.855+18871del
NM_019075.2:c.855+56del (UGT1A10) NP_061948.1:n.855+56del
NM_019076.4:c.855+18871del (UGT1A8) NP_061949.3:n.855+18871del
NM_019075.4:c.855+56del (UGT1A10) MANE Select NP_061948.1:n.855+56del
NM_019076.5:c.855+18871del (UGT1A8) MANE Select NP_061949.3:n.855+18871del
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