Canonical Allele Identifier: CA552413860

Gene: UGT2B17 UGT2B15

Linked Data

• dbSNP Id: rs1279662092
• gnomAD v2: 4-69433019-CCTT-C
• gnomAD v3: 4-68567301-CCTT-C
• gnomAD v4: 4-68567301-CCTT-C
• MyVariant Identifiers: chr4:g.69433020_69433022del (hg19) ; chr4:g.68567302_68567304del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.68567305_68567307del , CM000666.2:g.68567305_68567307del	GRCh38
NC_000004.11:g.69433023_69433025del , CM000666.1:g.69433023_69433025del	GRCh37
NC_000004.10:g.69115618_69115620del	NCBI36
NG_017033.1:g.6224_6226del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317746.3:c.724+457_724+459del (UGT2B17) MANE Select	ENSP00000320401.2:n.724+457_724+459del
ENST00000684088.1:c.-26-1584_-26-1582del (UGT2B17)	ENSP00000507374.1:n.-26-1584_-26-1582del
ENST00000317746.2:c.724+457_724+459del (UGT2B17)	ENSP00000320401.2:n.724+457_724+459del
ENST00000616841.4:c.1733-29778_1733-29776del (UGT2B15)	ENSP00000482004.1:n.1733-29778_1733-29776del
NM_001077.3:c.724+457_724+459del (UGT2B17)	NP_001068.1:n.724+457_724+459del
XM_024454205.1:c.724+457_724+459del (UGT2B17)	XP_024309973.1:n.724+457_724+459del
NM_001077.4:c.724+457_724+459del (UGT2B17) MANE Select	NP_001068.1:n.724+457_724+459del