Linked Data
dbSNP Id:
rs1392859333
gnomAD v2:
2-44051301-A-ATTGGGGGATG
gnomAD v4:
2-43824162-A-ATTGGGGGATG
MyVariant Identifiers:
chr2:g.44051301_44051302insTTGGGGGATG (hg19)
chr2:g.43824162_43824163insTTGGGGGATG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43824163_43824172dup , CM000664.2:g.43824163_43824172dup | GRCh38 |
| NC_000002.11:g.44051302_44051311dup , CM000664.1:g.44051302_44051311dup | GRCh37 |
| NC_000002.10:g.43904806_43904815dup | NCBI36 |
| NG_008883.1:g.19648_19657dup | |
| NG_053008.1:g.55125_55134dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405322.8:c.1118+47_1119-45dup (ABCG5) MANE Select | ENSP00000384513.2:n.1118+47_1119-45dup | |
| ENST00000644754.1:n.1502+47_1503-45dup (ABCG5) | ||
| ENST00000260645.5:c.1118+47_1119-45dup (ABCG5) | ENSP00000260645.1:n.1118+47_1119-45dup | |
| ENST00000405322.5:c.605+47_606-45dup (ABCG5) | ENSP00000384513.1:n.605+47_606-45dup | |
| ENST00000409962.1:c.392-54_392-45dup (ABCG5) | ENSP00000386501.1:n.392-54_392-45dup | |
| ENST00000486512.5:c.*388-54_*388-45dup (ABCG5) | ENSP00000430935.1:n.*388-54_*388-45dup | |
| NM_022436.2:c.1118+47_1119-45dup (ABCG5) | NP_071881.1:n.1118+47_1119-45dup | |
| XM_005264364.3:c.*16-3223_*16-3214dup (DYNC2LI1) | XP_005264421.1:n.*16-3223_*16-3214dup | |
| XM_005264365.3:c.*16-3223_*16-3214dup (DYNC2LI1) | XP_005264422.1:n.*16-3223_*16-3214dup | |
| XM_005264480.2:c.1118+47_1119-45dup (ABCG5) | XP_005264537.1:n.1118+47_1119-45dup | |
| XM_006712073.2:c.1118+47_1119-45dup (ABCG5) | XP_006712136.1:n.1118+47_1119-45dup | |
| XM_011533024.1:c.1118+47_1119-45dup (ABCG5) | XP_011531326.1:n.1118+47_1119-45dup | |
| XM_011533025.1:c.875+47_876-45dup (ABCG5) | XP_011531327.1:n.875+47_876-45dup | |
| XM_011533026.1:c.848+47_849-45dup (ABCG5) | XP_011531328.1:n.848+47_849-45dup | |
| XM_011533027.1:c.605+47_606-45dup (ABCG5) | XP_011531329.1:n.605+47_606-45dup | |
| XM_011533028.1:c.281+47_282-45dup (ABCG5) | XP_011531330.1:n.281+47_282-45dup | |
| NM_001348912.1:c.*16-3223_*16-3214dup (DYNC2LI1) | NP_001335841.1:n.*16-3223_*16-3214dup | |
| NM_001348913.1:c.*16-3223_*16-3214dup (DYNC2LI1) | NP_001335842.1:n.*16-3223_*16-3214dup | |
| XM_005264480.4:c.1118+47_1119-45dup (ABCG5) | XP_005264537.1:n.1118+47_1119-45dup | |
| XM_006712073.3:c.1118+47_1119-45dup (ABCG5) | XP_006712136.1:n.1118+47_1119-45dup | |
| XM_011533024.2:c.1118+47_1119-45dup (ABCG5) | XP_011531326.1:n.1118+47_1119-45dup | |
| XM_011533025.3:c.875+47_876-45dup (ABCG5) | XP_011531327.1:n.875+47_876-45dup | |
| XM_011533026.2:c.848+47_849-45dup (ABCG5) | XP_011531328.1:n.848+47_849-45dup | |
| XM_011533027.3:c.605+47_606-45dup (ABCG5) | XP_011531329.1:n.605+47_606-45dup | |
| XM_011533028.2:c.281+47_282-45dup (ABCG5) | XP_011531330.1:n.281+47_282-45dup | |
| NM_022436.3:c.1118+47_1119-45dup (ABCG5) MANE Select | NP_071881.1:n.1118+47_1119-45dup | |
| NM_001348912.2:c.*16-3223_*16-3214dup (DYNC2LI1) | NP_001335841.1:n.*16-3223_*16-3214dup | |
| NM_001348913.2:c.*16-3223_*16-3214dup (DYNC2LI1) | NP_001335842.1:n.*16-3223_*16-3214dup |