Linked Data
dbSNP Id:
rs764813144
ExAC:
19:13002380 GCTGT / G
gnomAD v2:
19-13002380-GCTGT-G
gnomAD v4:
19-12891566-GCTGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12891574_12891577del , CM000681.2:g.12891574_12891577del | GRCh38 |
| NC_000019.9:g.13002388_13002391del , CM000681.1:g.13002388_13002391del | GRCh37 |
| NC_000019.8:g.12863388_12863391del | NCBI36 |
| NG_009292.1:g.5415_5418del | |
| NG_013087.1:g.634_637del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.127+52_127+55del MANE Select | ENSP00000222214.4:n.127+52_127+55del | |
| ENST00000222214.9:c.127+52_127+55del | ENSP00000222214.4:n.127+52_127+55del | |
| ENST00000421816.6:n.168+179_168+182del | ||
| ENST00000585420.5:n.236_239del | ||
| ENST00000585760.5:n.163+52_163+55del | ||
| ENST00000587072.1:c.127+52_127+55del | ENSP00000468584.1:n.127+52_127+55del | |
| ENST00000587832.5:n.184+52_184+55del | ||
| ENST00000588905.5:c.91+179_91+182del | ENSP00000465770.1:n.91+179_91+182del | |
| ENST00000589039.5:c.127+52_127+55del | ENSP00000465618.1:n.127+52_127+55del | |
| ENST00000590445.5:c.179_182del | ENSP00000468125.1:p.Val60AlafsTer? | |
| ENST00000590530.5:c.127+52_127+55del | ENSP00000468452.1:n.127+52_127+55del | |
| ENST00000590627.5:n.236_239del | ||
| ENST00000591043.1:n.163+52_163+55del | ||
| ENST00000591470.5:c.127+52_127+55del | ENSP00000466845.1:n.127+52_127+55del | |
| NM_000159.3:c.127+52_127+55del | NP_000150.1:n.127+52_127+55del | |
| NM_013976.3:c.127+52_127+55del | NP_039663.1:n.127+52_127+55del | |
| NR_102316.1:n.235+52_235+55del | ||
| NR_102317.1:n.287_290del | ||
| XM_006722721.2:c.127+52_127+55del | XP_006722784.1:n.127+52_127+55del | |
| XM_011527899.1:c.127+52_127+55del | XP_011526201.1:n.127+52_127+55del | |
| XM_011527900.1:c.127+52_127+55del | XP_011526202.1:n.127+52_127+55del | |
| XM_011527899.2:c.127+52_127+55del | XP_011526201.1:n.127+52_127+55del | |
| XM_011527900.2:c.127+52_127+55del | XP_011526202.1:n.127+52_127+55del | |
| XM_017026580.1:c.127+52_127+55del | XP_016882069.1:n.127+52_127+55del | |
| NM_000159.4:c.127+52_127+55del MANE Select | NP_000150.1:n.127+52_127+55del | |
| NM_013976.4:c.127+52_127+55del | NP_039663.1:n.127+52_127+55del | |
| NM_013976.5:c.127+52_127+55del | NP_039663.1:n.127+52_127+55del |