Canonical Allele Identifier: CA351754

Gene: ABCG5 DYNC2LI1

Linked Data

• ClinVar Variation Id: 222478
• ClinVar RCV Id: RCV000208063
• dbSNP Id: rs869025350
• MyVariant Identifiers: chr2:g.44051498del (hg19) ; chr2:g.43824359del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43824360del , CM000664.2:g.43824360del	GRCh38
NC_000002.11:g.44051499del , CM000664.1:g.44051499del	GRCh37
NC_000002.10:g.43905003del	NCBI36
NG_008883.1:g.19461del
NG_053008.1:g.55322del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405322.8:c.978del (ABCG5) MANE Select	ENSP00000384513.2:p.Glu326AspfsTer14
ENST00000644754.1:n.1362del (ABCG5)
ENST00000260645.5:c.978del (ABCG5)	ENSP00000260645.1:p.Glu326AspfsTer14
ENST00000405322.5:c.465del (ABCG5)	ENSP00000384513.1:p.Glu155AspfsTer14
ENST00000409962.1:c.392-241del (ABCG5)	ENSP00000386501.1:n.392-241del
ENST00000486512.5:c.*388-241del (ABCG5)	ENSP00000430935.1:n.*388-241del
NM_022436.2:c.978del (ABCG5)	NP_071881.1:p.Glu326AspfsTer14
XM_005264364.3:c.*16-3026del (DYNC2LI1)	XP_005264421.1:n.*16-3026del
XM_005264365.3:c.*16-3026del (DYNC2LI1)	XP_005264422.1:n.*16-3026del
XM_005264480.2:c.978del (ABCG5)	XP_005264537.1:p.Glu326AspfsTer14
XM_006712073.2:c.978del (ABCG5)	XP_006712136.1:p.Glu326AspfsTer14
XM_011533024.1:c.978del (ABCG5)	XP_011531326.1:p.Glu326AspfsTer14
XM_011533025.1:c.735del (ABCG5)	XP_011531327.1:p.Glu245AspfsTer14
XM_011533026.1:c.708del (ABCG5)	XP_011531328.1:p.Glu236AspfsTer14
XM_011533027.1:c.465del (ABCG5)	XP_011531329.1:p.Glu155AspfsTer14
XM_011533028.1:c.141del (ABCG5)	XP_011531330.1:p.Glu47AspfsTer14
NM_001348912.1:c.*16-3026del (DYNC2LI1)	NP_001335841.1:n.*16-3026del
NM_001348913.1:c.*16-3026del (DYNC2LI1)	NP_001335842.1:n.*16-3026del
XM_005264480.4:c.978del (ABCG5)	XP_005264537.1:p.Glu326AspfsTer14
XM_006712073.3:c.978del (ABCG5)	XP_006712136.1:p.Glu326AspfsTer14
XM_011533024.2:c.978del (ABCG5)	XP_011531326.1:p.Glu326AspfsTer14
XM_011533025.3:c.735del (ABCG5)	XP_011531327.1:p.Glu245AspfsTer14
XM_011533026.2:c.708del (ABCG5)	XP_011531328.1:p.Glu236AspfsTer14
XM_011533027.3:c.465del (ABCG5)	XP_011531329.1:p.Glu155AspfsTer14
XM_011533028.2:c.141del (ABCG5)	XP_011531330.1:p.Glu47AspfsTer14
NM_022436.3:c.978del (ABCG5) MANE Select	NP_071881.1:p.Glu326AspfsTer14
NM_001348912.2:c.*16-3026del (DYNC2LI1)	NP_001335841.1:n.*16-3026del
NM_001348913.2:c.*16-3026del (DYNC2LI1)	NP_001335842.1:n.*16-3026del