Canonical Allele Identifier: CA2493933502

Gene: ABCG5 DYNC2LI1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43824121_43824122delinsGA , CM000664.2:g.43824121_43824122delinsGA	GRCh38
NC_000002.11:g.44051260_44051261delinsGA , CM000664.1:g.44051260_44051261delinsGA	GRCh37
NC_000002.10:g.43904764_43904765delinsGA	NCBI36
NG_008883.1:g.19698_19699delinsTC
NG_053008.1:g.55083_55084delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405322.8:c.1119-4_1119-3delinsTC (ABCG5) MANE Select	ENSP00000384513.2:n.1119-4_1119-3delinsTC
ENST00000644754.1:n.1503-4_1503-3delinsTC (ABCG5)
ENST00000260645.5:c.1119-4_1119-3delinsTC (ABCG5)	ENSP00000260645.1:n.1119-4_1119-3delinsTC
ENST00000405322.5:c.606-4_606-3delinsTC (ABCG5)	ENSP00000384513.1:n.606-4_606-3delinsTC
ENST00000409962.1:c.392-4_392-3delinsTC (ABCG5)	ENSP00000386501.1:n.392-4_392-3delinsTC
ENST00000486512.5:c.*388-4_*388-3delinsTC (ABCG5)	ENSP00000430935.1:n.*388-4_*388-3delinsTC
NM_022436.2:c.1119-4_1119-3delinsTC (ABCG5)	NP_071881.1:n.1119-4_1119-3delinsTC
XM_005264364.3:c.*16-3265_*16-3264delinsGA (DYNC2LI1)	XP_005264421.1:n.*16-3265_*16-3264delinsGA
XM_005264365.3:c.*16-3265_*16-3264delinsGA (DYNC2LI1)	XP_005264422.1:n.*16-3265_*16-3264delinsGA
XM_005264480.2:c.1119-4_1119-3delinsTC (ABCG5)	XP_005264537.1:n.1119-4_1119-3delinsTC
XM_006712073.2:c.1119-4_1119-3delinsTC (ABCG5)	XP_006712136.1:n.1119-4_1119-3delinsTC
XM_011533024.1:c.1119-4_1119-3delinsTC (ABCG5)	XP_011531326.1:n.1119-4_1119-3delinsTC
XM_011533025.1:c.876-4_876-3delinsTC (ABCG5)	XP_011531327.1:n.876-4_876-3delinsTC
XM_011533026.1:c.849-4_849-3delinsTC (ABCG5)	XP_011531328.1:n.849-4_849-3delinsTC
XM_011533027.1:c.606-4_606-3delinsTC (ABCG5)	XP_011531329.1:n.606-4_606-3delinsTC
XM_011533028.1:c.282-4_282-3delinsTC (ABCG5)	XP_011531330.1:n.282-4_282-3delinsTC
NM_001348912.1:c.*16-3265_*16-3264delinsGA (DYNC2LI1)	NP_001335841.1:n.*16-3265_*16-3264delinsGA
NM_001348913.1:c.*16-3265_*16-3264delinsGA (DYNC2LI1)	NP_001335842.1:n.*16-3265_*16-3264delinsGA
XM_005264480.4:c.1119-4_1119-3delinsTC (ABCG5)	XP_005264537.1:n.1119-4_1119-3delinsTC
XM_006712073.3:c.1119-4_1119-3delinsTC (ABCG5)	XP_006712136.1:n.1119-4_1119-3delinsTC
XM_011533024.2:c.1119-4_1119-3delinsTC (ABCG5)	XP_011531326.1:n.1119-4_1119-3delinsTC
XM_011533025.3:c.876-4_876-3delinsTC (ABCG5)	XP_011531327.1:n.876-4_876-3delinsTC
XM_011533026.2:c.849-4_849-3delinsTC (ABCG5)	XP_011531328.1:n.849-4_849-3delinsTC
XM_011533027.3:c.606-4_606-3delinsTC (ABCG5)	XP_011531329.1:n.606-4_606-3delinsTC
XM_011533028.2:c.282-4_282-3delinsTC (ABCG5)	XP_011531330.1:n.282-4_282-3delinsTC
NM_022436.3:c.1119-4_1119-3delinsTC (ABCG5) MANE Select	NP_071881.1:n.1119-4_1119-3delinsTC
NM_001348912.2:c.*16-3265_*16-3264delinsGA (DYNC2LI1)	NP_001335841.1:n.*16-3265_*16-3264delinsGA
NM_001348913.2:c.*16-3265_*16-3264delinsGA (DYNC2LI1)	NP_001335842.1:n.*16-3265_*16-3264delinsGA