Linked Data
ClinVar Variation Id:
466248
ClinVar RCV Id:
RCV000526506
dbSNP Id:
rs1555673890
gnomAD v2:
18-43493697-C-CAGAGTTTATCACCAATTCCCCTTCAATA
gnomAD v4:
18-45913732-C-CAGAGTTTATCACCAATTCCCCTTCAATA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45913734_45913761dup , CM000680.2:g.45913734_45913761dup | GRCh38 |
| NC_000018.9:g.43493699_43493726dup , CM000680.1:g.43493699_43493726dup | GRCh37 |
| NC_000018.8:g.41747697_41747724dup | NCBI36 |
| NG_042838.1:g.58580_58607dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586655.2:n.1946_1973dup | ||
| ENST00000587884.2:c.3762_3789dup | ENSP00000466990.2:p.Ala1264TyrfsTer2 | |
| ENST00000590884.6:c.3762_3789dup | ENSP00000466403.2:p.Ala1264TyrfsTer2 | |
| ENST00000592272.6:c.3762_3789dup | ENSP00000467464.2:p.Ala1264TyrfsTer2 | |
| ENST00000696482.1:c.3502_3529dup | ENSP00000512656.1:n.3502_3529dup | |
| ENST00000696483.1:c.3762_3789dup | ENSP00000512657.1:p.Ala1264TyrfsTer2 | |
| ENST00000696484.1:c.3762_3789dup | ENSP00000512658.1:p.Ala1264TyrfsTer2 | |
| ENST00000696485.1:c.3762_3789dup | ENSP00000512659.1:p.Ala1264TyrfsTer2 | |
| ENST00000696489.1:c.3762_3789dup | ENSP00000512660.1:p.Ala1264TyrfsTer2 | |
| ENST00000696490.1:c.3762_3789dup | ENSP00000512661.1:p.Ala1264TyrfsTer2 | |
| ENST00000282041.11:c.3762_3789dup MANE Select | ENSP00000282041.4:p.Ala1264TyrfsTer2 | |
| ENST00000282041.9:c.3762_3789dup | ENSP00000282041.4:p.Ala1264TyrfsTer2 | |
| ENST00000585906.5:n.541_568dup | ||
| ENST00000587884.1:c.387_414dup | ENSP00000466990.1:p.Ala139TyrfsTer2 | |
| ENST00000587974.1:n.3797_3824dup | ||
| ENST00000590884.5:c.387_414dup | ENSP00000466403.1:p.Ala139TyrfsTer2 | |
| ENST00000592272.5:c.387_414dup | ENSP00000467464.1:p.Ala139TyrfsTer2 | |
| NM_020964.2:c.3762_3789dup | NP_066015.2:p.Ala1264TyrfsTer2 | |
| XM_011526120.1:c.3762_3789dup | XP_011524422.1:p.Ala1264TyrfsTer2 | |
| XM_011526121.1:c.3762_3789dup | XP_011524423.1:p.Ala1264TyrfsTer2 | |
| XM_011526122.1:c.3762_3789dup | XP_011524424.1:p.Ala1264TyrfsTer2 | |
| XM_011526123.1:c.3762_3789dup | XP_011524425.1:p.Ala1264TyrfsTer2 | |
| XM_011526124.1:c.3762_3789dup | XP_011524426.1:p.Ala1264TyrfsTer2 | |
| XM_011526125.1:c.3621_3648dup | XP_011524427.1:p.Ala1217TyrfsTer2 | |
| XM_011526126.1:c.2697_2724dup | XP_011524428.1:p.Ala909TyrfsTer2 | |
| XM_011526127.1:c.3762_3789dup | XP_011524429.1:p.Ala1264TyrfsTer2 | |
| XM_011526128.1:c.3762_3789dup | XP_011524430.1:p.Ala1264TyrfsTer2 | |
| XR_935244.1:n.3862_3889dup | ||
| NM_020964.3:c.3762_3789dup MANE Select | NP_066015.2:p.Ala1264TyrfsTer2 | |
| XM_017025889.1:c.3762_3789dup | XP_016881378.1:p.Ala1264TyrfsTer2 | |
| XM_017025890.2:c.3762_3789dup | XP_016881379.1:p.Ala1264TyrfsTer2 | |
| XM_017025891.1:c.3621_3648dup | XP_016881380.1:p.Ala1217TyrfsTer2 | |
| XM_017025892.1:c.2697_2724dup | XP_016881381.1:p.Ala909TyrfsTer2 | |
| XM_017025893.1:c.387_414dup | XP_016881382.1:p.Ala139TyrfsTer2 | |
| XR_001753256.1:n.3844_3871dup | ||
| XR_001753257.1:n.3844_3871dup |