gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428726_127428728del , CM000664.2:g.127428726_127428728del | GRCh38 |
| NC_000002.11:g.128186302_128186304del , CM000664.1:g.128186302_128186304del | GRCh37 |
| NC_000002.10:g.127902772_127902774del | NCBI36 |
| NG_016323.1:g.15307_15309del , LRG_599:g.15307_15309del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.1166_1168del MANE Select | ENSP00000234071.4:p.Gly389_Ile390delinsVal | |
| ENST00000234071.7:c.1166_1168del | ENSP00000234071.3:p.Gly389_Ile390delinsVal | |
| ENST00000402125.2:c.490_492del | ||
| ENST00000409048.1:c.1268_1270del | ENSP00000386679.1:p.Gly423_Ile424delinsVal | |
| NM_000312.3:c.1166_1168del , LRG_599t1:c.1166_1168del | NP_000303.1:p.Gly389_Ile390delinsVal | |
| XM_005263715.3:c.1349_1351del | XP_005263772.1:p.Gly450_Ile451delinsVal | |
| XM_005263716.3:c.1331_1333del | XP_005263773.1:p.Gly444_Ile445delinsVal | |
| XM_005263717.3:c.1229_1231del | XP_005263774.1:p.Gly410_Ile411delinsVal | |
| XR_923313.1:n.1332-464_1332-462del | ||
| XM_005263717.4:c.1229_1231del | XP_005263774.1:p.Gly410_Ile411delinsVal | |
| XM_017004505.1:c.1409_1411del | XP_016859994.1:p.Gly470_Ile471delinsVal | |
| XM_024453002.1:c.1511_1513del | XP_024308770.1:p.Gly504_Ile505delinsVal | |
| XM_024453003.1:c.1451_1453del | XP_024308771.1:p.Gly484_Ile485delinsVal | |
| XM_024453004.1:c.1349_1351del | XP_024308772.1:p.Gly450_Ile451delinsVal | |
| XM_024453005.1:c.1331_1333del | XP_024308773.1:p.Gly444_Ile445delinsVal | |
| XM_024453006.1:c.1268_1270del | XP_024308774.1:p.Gly423_Ile424delinsVal | |
| XR_001739705.1:n.3607-464_3607-462del | ||
| XR_923313.2:n.4043-464_4043-462del | ||
| NM_000312.4:c.1166_1168del MANE Select | NP_000303.1:p.Gly389_Ile390delinsVal | |
| NM_001375602.1:c.1349_1351del | NP_001362531.1:p.Gly450_Ile451delinsVal | |
| NM_001375603.1:c.1331_1333del | NP_001362532.1:p.Gly444_Ile445delinsVal | |
| NM_001375604.1:c.1229_1231del | NP_001362533.1:p.Gly410_Ile411delinsVal | |
| NM_001375605.1:c.1268_1270del | NP_001362534.1:p.Gly423_Ile424delinsVal | |
| NM_001375606.1:c.1334_1336del | NP_001362535.1:p.Gly445_Ile446delinsVal | |
| NM_001375607.1:c.1352_1354del | NP_001362536.1:p.Gly451_Ile452delinsVal | |
| NM_001375608.1:c.1109_1111del | NP_001362537.1:p.Gly370_Ile371delinsVal | |
| NM_001375609.1:c.1142_1144del | NP_001362538.1:p.Gly381_Ile382delinsVal | |
| NM_001375610.1:c.1160_1162del | NP_001362539.1:p.Gly387_Ile388delinsVal | |
| NM_001375611.1:c.1166_1168del | NP_001362540.1:p.Gly389_Ile390delinsVal | |
| NM_001375613.1:c.1166_1168del | NP_001362542.1:p.Gly389_Ile390delinsVal |