Canonical Allele Identifier: CA540052648

Gene: UGT1A10 UGT1A8

Linked Data

• dbSNP Id: rs1489891830
• gnomAD v2: 2-234546063-CTTTGG-C
• gnomAD v4: 2-233637417-CTTTGG-C
• MyVariant Identifiers: chr2:g.234546064_234546068del (hg19) ; chr2:g.233637418_233637422del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233637418_233637422del , CM000664.2:g.233637418_233637422del	GRCh38
NC_000002.11:g.234546064_234546068del , CM000664.1:g.234546064_234546068del	GRCh37
NC_000002.10:g.234210803_234210807del	NCBI36
NG_002601.2:g.52675_52679del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344644.10:c.855+41_855+45del (UGT1A10) MANE Select	ENSP00000343838.5:n.855+41_855+45del
ENST00000373450.5:c.855+18856_855+18860del (UGT1A8) MANE Select	ENSP00000362549.4:n.855+18856_855+18860del
ENST00000344644.9:c.855+41_855+45del (UGT1A10)	ENSP00000343838.5:n.855+41_855+45del
ENST00000373445.1:c.855+41_855+45del (UGT1A10)	ENSP00000362544.1:n.855+41_855+45del
ENST00000373450.4:c.855+18856_855+18860del (UGT1A8)	ENSP00000362549.4:n.855+18856_855+18860del
NM_019075.2:c.855+41_855+45del (UGT1A10)	NP_061948.1:n.855+41_855+45del
NM_019076.4:c.855+18856_855+18860del (UGT1A8)	NP_061949.3:n.855+18856_855+18860del
NM_019075.4:c.855+41_855+45del (UGT1A10) MANE Select	NP_061948.1:n.855+41_855+45del
NM_019076.5:c.855+18856_855+18860del (UGT1A8) MANE Select	NP_061949.3:n.855+18856_855+18860del