Linked Data
dbSNP Id:
rs868969771
gnomAD v3:
8-143916348-GGTGCGGGAGCCA-G
gnomAD v4:
8-143916348-GGTGCGGGAGCCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143916350_143916361del , CM000670.2:g.143916350_143916361del | GRCh38 |
| NC_000008.10:g.144990518_144990529del , CM000670.1:g.144990518_144990529del | GRCh37 |
| NC_000008.9:g.145062506_145062517del | NCBI36 |
| NG_012492.1:g.65386_65397del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.13593_13604del | ENSP00000437303.2:p.Gly4532_Thr4535del | |
| ENST00000685198.1:c.13512_13523del | ENSP00000510528.1:p.Gly4505_Thr4508del | |
| ENST00000687971.1:c.13179_13190del | ENSP00000510788.1:p.Gly4394_Thr4397del | |
| ENST00000693060.1:c.13392_13403del | ENSP00000510329.1:p.Gly4465_Thr4468del | |
| ENST00000345136.8:c.13461_13472del MANE Select | ENSP00000344848.3:p.Gly4488_Thr4491del | |
| ENST00000527303.2:c.10161_10172del | ENSP00000433982.2:p.Gly3388_Thr3391del | |
| ENST00000322810.8:c.13872_13883del | ENSP00000323856.4:p.Gly4625_Thr4628del | |
| ENST00000345136.7:c.13461_13472del | ENSP00000344848.3:p.Gly4488_Thr4491del | |
| ENST00000354589.7:c.13461_13472del | ENSP00000346602.3:p.Gly4488_Thr4491del | |
| ENST00000354958.6:c.13395_13406del | ENSP00000347044.2:p.Gly4466_Thr4469del | |
| ENST00000356346.7:c.13419_13430del MANE Plus Clinical | ENSP00000348702.3:p.Gly4474_Thr4477del | |
| ENST00000357649.6:c.13473_13484del | ENSP00000350277.2:p.Gly4492_Thr4495del | |
| ENST00000398774.6:c.13365_13376del | ENSP00000381756.2:p.Gly4456_Thr4459del | |
| ENST00000436759.6:c.13542_13553del | ENSP00000388180.2:p.Gly4515_Thr4518del | |
| ENST00000527096.5:c.13530_13541del | ENSP00000434583.1:p.Gly4511_Thr4514del | |
| NM_000445.4:c.13542_13553del | NP_000436.2:p.Gly4515_Thr4518del | |
| NM_201378.3:c.13419_13430del | NP_958780.1:p.Gly4474_Thr4477del | |
| NM_201379.2:c.13395_13406del | NP_958781.1:p.Gly4466_Thr4469del | |
| NM_201380.3:c.13872_13883del | NP_958782.1:p.Gly4625_Thr4628del | |
| NM_201381.2:c.13365_13376del | NP_958783.1:p.Gly4456_Thr4459del | |
| NM_201382.3:c.13461_13472del | NP_958784.1:p.Gly4488_Thr4491del | |
| NM_201383.2:c.13473_13484del | NP_958785.1:p.Gly4492_Thr4495del | |
| NM_201384.2:c.13461_13472del | NP_958786.1:p.Gly4488_Thr4491del | |
| XM_005250976.2:c.13887_13898del | XP_005251033.1:p.Gly4630_Thr4633del | |
| XM_005250978.2:c.13488_13499del | XP_005251035.1:p.Gly4497_Thr4500del | |
| XM_005250979.3:c.13476_13487del | XP_005251036.1:p.Gly4493_Thr4496del | |
| XM_005250980.3:c.13476_13487del | XP_005251037.1:p.Gly4493_Thr4496del | |
| XM_005250981.2:c.13434_13445del | XP_005251038.1:p.Gly4479_Thr4482del | |
| XM_005250982.2:c.13410_13421del | XP_005251039.1:p.Gly4471_Thr4474del | |
| XM_005250983.2:c.13392_13403del | XP_005251040.1:p.Gly4465_Thr4468del | |
| XM_005250984.3:c.13380_13391del | XP_005251041.1:p.Gly4461_Thr4464del | |
| XM_006716588.2:c.13557_13568del | XP_006716651.1:p.Gly4520_Thr4523del | |
| XM_006716589.2:c.13407_13418del | XP_006716652.1:p.Gly4470_Thr4473del | |
| XM_006716590.2:c.13407_13418del | XP_006716653.1:p.Gly4470_Thr4473del | |
| XM_011517130.1:c.13476_13487del | XP_011515432.1:p.Gly4493_Thr4496del | |
| XM_011517131.1:c.13392_13403del | XP_011515433.1:p.Gly4465_Thr4468del | |
| XM_011517132.1:c.10107_10118del | XP_011515434.1:p.Gly3370_Thr3373del | |
| XM_005250976.4:c.13887_13898del | XP_005251033.1:p.Gly4630_Thr4633del | |
| XM_005250978.3:c.13488_13499del | XP_005251035.1:p.Gly4497_Thr4500del | |
| XM_005250979.4:c.13476_13487del | XP_005251036.1:p.Gly4493_Thr4496del | |
| XM_005250980.4:c.13476_13487del | XP_005251037.1:p.Gly4493_Thr4496del | |
| XM_005250981.3:c.13434_13445del | XP_005251038.1:p.Gly4479_Thr4482del | |
| XM_005250982.4:c.13410_13421del | XP_005251039.1:p.Gly4471_Thr4474del | |
| XM_005250984.5:c.13380_13391del | XP_005251041.1:p.Gly4461_Thr4464del | |
| XM_006716588.3:c.13557_13568del | XP_006716651.1:p.Gly4520_Thr4523del | |
| XM_006716590.3:c.13407_13418del | XP_006716653.1:p.Gly4470_Thr4473del | |
| XM_011517130.2:c.13476_13487del | XP_011515432.1:p.Gly4493_Thr4496del | |
| XM_011517131.2:c.13392_13403del | XP_011515433.1:p.Gly4465_Thr4468del | |
| XM_011517132.2:c.10107_10118del | XP_011515434.1:p.Gly3370_Thr3373del | |
| NM_000445.5:c.13542_13553del | NP_000436.2:p.Gly4515_Thr4518del | |
| NM_201378.4:c.13419_13430del MANE Plus Clinical | NP_958780.1:p.Gly4474_Thr4477del | |
| NM_201379.3:c.13395_13406del | NP_958781.1:p.Gly4466_Thr4469del | |
| NM_201380.4:c.13872_13883del | NP_958782.1:p.Gly4625_Thr4628del | |
| NM_201381.3:c.13365_13376del | NP_958783.1:p.Gly4456_Thr4459del | |
| NM_201382.4:c.13461_13472del | NP_958784.1:p.Gly4488_Thr4491del | |
| NM_201383.3:c.13473_13484del | NP_958785.1:p.Gly4492_Thr4495del | |
| NM_201384.3:c.13461_13472del MANE Select | NP_958786.1:p.Gly4488_Thr4491del |