Linked Data
dbSNP Id:
rs1367735932
gnomAD v3:
8-143916342-CGAGCCGGTGCGG-C
gnomAD v4:
8-143916342-CGAGCCGGTGCGG-C
MyVariant Identifiers:
chr8:g.143916343_143916354del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143916348_143916359del , CM000670.2:g.143916348_143916359del | GRCh38 |
| NC_000008.10:g.144990516_144990527del , CM000670.1:g.144990516_144990527del | GRCh37 |
| NC_000008.9:g.145062504_145062515del | NCBI36 |
| NG_012492.1:g.65392_65403del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.13599_13610del | ENSP00000437303.2:p.Arg4534_Ser4537del | |
| ENST00000685198.1:c.13518_13529del | ENSP00000510528.1:p.Arg4507_Ser4510del | |
| ENST00000687971.1:c.13185_13196del | ENSP00000510788.1:p.Arg4396_Ser4399del | |
| ENST00000693060.1:c.13398_13409del | ENSP00000510329.1:p.Arg4467_Ser4470del | |
| ENST00000345136.8:c.13467_13478del MANE Select | ENSP00000344848.3:p.Arg4490_Ser4493del | |
| ENST00000527303.2:c.10167_10178del | ENSP00000433982.2:p.Arg3390_Ser3393del | |
| ENST00000322810.8:c.13878_13889del | ENSP00000323856.4:p.Arg4627_Ser4630del | |
| ENST00000345136.7:c.13467_13478del | ENSP00000344848.3:p.Arg4490_Ser4493del | |
| ENST00000354589.7:c.13467_13478del | ENSP00000346602.3:p.Arg4490_Ser4493del | |
| ENST00000354958.6:c.13401_13412del | ENSP00000347044.2:p.Arg4468_Ser4471del | |
| ENST00000356346.7:c.13425_13436del MANE Plus Clinical | ENSP00000348702.3:p.Arg4476_Ser4479del | |
| ENST00000357649.6:c.13479_13490del | ENSP00000350277.2:p.Arg4494_Ser4497del | |
| ENST00000398774.6:c.13371_13382del | ENSP00000381756.2:p.Arg4458_Ser4461del | |
| ENST00000436759.6:c.13548_13559del | ENSP00000388180.2:p.Arg4517_Ser4520del | |
| ENST00000527096.5:c.13536_13547del | ENSP00000434583.1:p.Arg4513_Ser4516del | |
| NM_000445.4:c.13548_13559del | NP_000436.2:p.Arg4517_Ser4520del | |
| NM_201378.3:c.13425_13436del | NP_958780.1:p.Arg4476_Ser4479del | |
| NM_201379.2:c.13401_13412del | NP_958781.1:p.Arg4468_Ser4471del | |
| NM_201380.3:c.13878_13889del | NP_958782.1:p.Arg4627_Ser4630del | |
| NM_201381.2:c.13371_13382del | NP_958783.1:p.Arg4458_Ser4461del | |
| NM_201382.3:c.13467_13478del | NP_958784.1:p.Arg4490_Ser4493del | |
| NM_201383.2:c.13479_13490del | NP_958785.1:p.Arg4494_Ser4497del | |
| NM_201384.2:c.13467_13478del | NP_958786.1:p.Arg4490_Ser4493del | |
| XM_005250976.2:c.13893_13904del | XP_005251033.1:p.Arg4632_Ser4635del | |
| XM_005250978.2:c.13494_13505del | XP_005251035.1:p.Arg4499_Ser4502del | |
| XM_005250979.3:c.13482_13493del | XP_005251036.1:p.Arg4495_Ser4498del | |
| XM_005250980.3:c.13482_13493del | XP_005251037.1:p.Arg4495_Ser4498del | |
| XM_005250981.2:c.13440_13451del | XP_005251038.1:p.Arg4481_Ser4484del | |
| XM_005250982.2:c.13416_13427del | XP_005251039.1:p.Arg4473_Ser4476del | |
| XM_005250983.2:c.13398_13409del | XP_005251040.1:p.Arg4467_Ser4470del | |
| XM_005250984.3:c.13386_13397del | XP_005251041.1:p.Arg4463_Ser4466del | |
| XM_006716588.2:c.13563_13574del | XP_006716651.1:p.Arg4522_Ser4525del | |
| XM_006716589.2:c.13413_13424del | XP_006716652.1:p.Arg4472_Ser4475del | |
| XM_006716590.2:c.13413_13424del | XP_006716653.1:p.Arg4472_Ser4475del | |
| XM_011517130.1:c.13482_13493del | XP_011515432.1:p.Arg4495_Ser4498del | |
| XM_011517131.1:c.13398_13409del | XP_011515433.1:p.Arg4467_Ser4470del | |
| XM_011517132.1:c.10113_10124del | XP_011515434.1:p.Arg3372_Ser3375del | |
| XM_005250976.4:c.13893_13904del | XP_005251033.1:p.Arg4632_Ser4635del | |
| XM_005250978.3:c.13494_13505del | XP_005251035.1:p.Arg4499_Ser4502del | |
| XM_005250979.4:c.13482_13493del | XP_005251036.1:p.Arg4495_Ser4498del | |
| XM_005250980.4:c.13482_13493del | XP_005251037.1:p.Arg4495_Ser4498del | |
| XM_005250981.3:c.13440_13451del | XP_005251038.1:p.Arg4481_Ser4484del | |
| XM_005250982.4:c.13416_13427del | XP_005251039.1:p.Arg4473_Ser4476del | |
| XM_005250984.5:c.13386_13397del | XP_005251041.1:p.Arg4463_Ser4466del | |
| XM_006716588.3:c.13563_13574del | XP_006716651.1:p.Arg4522_Ser4525del | |
| XM_006716590.3:c.13413_13424del | XP_006716653.1:p.Arg4472_Ser4475del | |
| XM_011517130.2:c.13482_13493del | XP_011515432.1:p.Arg4495_Ser4498del | |
| XM_011517131.2:c.13398_13409del | XP_011515433.1:p.Arg4467_Ser4470del | |
| XM_011517132.2:c.10113_10124del | XP_011515434.1:p.Arg3372_Ser3375del | |
| NM_000445.5:c.13548_13559del | NP_000436.2:p.Arg4517_Ser4520del | |
| NM_201378.4:c.13425_13436del MANE Plus Clinical | NP_958780.1:p.Arg4476_Ser4479del | |
| NM_201379.3:c.13401_13412del | NP_958781.1:p.Arg4468_Ser4471del | |
| NM_201380.4:c.13878_13889del | NP_958782.1:p.Arg4627_Ser4630del | |
| NM_201381.3:c.13371_13382del | NP_958783.1:p.Arg4458_Ser4461del | |
| NM_201382.4:c.13467_13478del | NP_958784.1:p.Arg4490_Ser4493del | |
| NM_201383.3:c.13479_13490del | NP_958785.1:p.Arg4494_Ser4497del | |
| NM_201384.3:c.13467_13478del MANE Select | NP_958786.1:p.Arg4490_Ser4493del |