Canonical Allele Identifier: CA10576149
Gene: UGT1A10 HGNC NCBI
UGT1A8 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.233671808del
GRCh37 chr2:g.234580454del
gnomAD v2:
2:234580453 AT / A
gnomAD v3:
2:233671807 AT / A
gnomAD v4:
chr2-233671807-AT-A
Joint Max Group AF 0.63765452 (NFE)
Genomes Max Group AF 0.62955232 (SAS)
Exomes Max Group AF 0.63819277 (NFE)
dbSNP:
3832043
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233671817del , CM000664.2:g.233671817del GRCh38
NC_000002.11:g.234580463del , CM000664.1:g.234580463del GRCh37
NC_000002.10:g.234245202del NCBI36
NG_002601.2:g.87074del

Transcript Alleles

HGVS Amino-acid Change
ENST00000344644.10:c.855+34440del (UGT1A10) MANE Select ENSP00000343838.5:n.855+34440del
ENST00000373450.5:c.855+53255del (UGT1A8) MANE Select ENSP00000362549.4:n.855+53255del
ENST00000344644.9:c.855+34440del (UGT1A10) ENSP00000343838.5:n.855+34440del
ENST00000373445.1:c.855+34440del (UGT1A10) ENSP00000362544.1:n.855+34440del
ENST00000373450.4:c.855+53255del (UGT1A8) ENSP00000362549.4:n.855+53255del
NM_019075.2:c.855+34440del (UGT1A10) NP_061948.1:n.855+34440del
NM_019076.4:c.855+53255del (UGT1A8) NP_061949.3:n.855+53255del
NM_019075.4:c.855+34440del (UGT1A10) MANE Select NP_061948.1:n.855+34440del
NM_019076.5:c.855+53255del (UGT1A8) MANE Select NP_061949.3:n.855+53255del
Search 100 bp 5'
Search 100 bp 3'