Canonical Allele Identifier: CA532273631

Gene: ABCG5 DYNC2LI1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43826180del , CM000664.2:g.43826180del	GRCh38
NC_000002.11:g.44053319del , CM000664.1:g.44053319del	GRCh37
NC_000002.10:g.43906823del	NCBI36
NG_008883.1:g.17653del
NG_053008.1:g.57142del

Transcript Alleles

HGVS	Amino-acid Change
NM_022436.3:c.774+215del (ABCG5) MANE Select	NP_071881.1:n.774+215del
ENST00000405322.8:c.774+215del (ABCG5) MANE Select	ENSP00000384513.2:n.774+215del
NM_001348912.1:c.*16-1206del (DYNC2LI1)	NP_001335841.1:n.*16-1206del
NM_001348912.2:c.*16-1206del (DYNC2LI1)	NP_001335841.1:n.*16-1206del
NM_001348913.1:c.*16-1206del (DYNC2LI1)	NP_001335842.1:n.*16-1206del
NM_001348913.2:c.*16-1206del (DYNC2LI1)	NP_001335842.1:n.*16-1206del
NM_022436.2:c.774+215del (ABCG5)	NP_071881.1:n.774+215del
ENST00000260645.5:c.774+215del (ABCG5)	ENSP00000260645.1:n.774+215del
ENST00000405322.5:c.392-1735del (ABCG5)	ENSP00000384513.1:n.392-1735del
ENST00000409962.1:c.391+1816del (ABCG5)	ENSP00000386501.1:n.391+1816del
ENST00000486512.5:c.*387+1816del (ABCG5)	ENSP00000430935.1:n.*387+1816del
ENST00000644754.1:n.1289-1735del (ABCG5)
XM_005264364.3:c.*16-1206del (DYNC2LI1)	XP_005264421.1:n.*16-1206del
XM_005264365.3:c.*16-1206del (DYNC2LI1)	XP_005264422.1:n.*16-1206del
XM_005264480.2:c.774+215del (ABCG5)	XP_005264537.1:n.774+215del
XM_005264480.4:c.774+215del (ABCG5)	XP_005264537.1:n.774+215del
XM_006712073.2:c.774+215del (ABCG5)	XP_006712136.1:n.774+215del
XM_006712073.3:c.774+215del (ABCG5)	XP_006712136.1:n.774+215del
XM_006712074.2:c.774+215del (ABCG5)	XP_006712137.1:n.774+215del
XM_006712074.3:c.774+215del (ABCG5)	XP_006712137.1:n.774+215del
XM_011533024.1:c.774+215del (ABCG5)	XP_011531326.1:n.774+215del
XM_011533024.2:c.774+215del (ABCG5)	XP_011531326.1:n.774+215del
XM_011533025.1:c.531+215del (ABCG5)	XP_011531327.1:n.531+215del
XM_011533025.3:c.531+215del (ABCG5)	XP_011531327.1:n.531+215del
XM_011533026.1:c.635-1735del (ABCG5)	XP_011531328.1:n.635-1735del
XM_011533026.2:c.635-1735del (ABCG5)	XP_011531328.1:n.635-1735del
XM_011533027.1:c.261+215del (ABCG5)	XP_011531329.1:n.261+215del
XM_011533027.3:c.261+215del (ABCG5)	XP_011531329.1:n.261+215del
XM_011533028.1:c.-63-1149del (ABCG5)	XP_011531330.1:n.-63-1149del
XM_011533028.2:c.-63-1149del (ABCG5)	XP_011531330.1:n.-63-1149del