Linked Data
dbSNP Id:
rs1558718093
gnomAD v2:
2-128186178-CGA-C
gnomAD v3:
2-127428602-CGA-C
gnomAD v4:
2-127428602-CGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428607_127428608del , CM000664.2:g.127428607_127428608del | GRCh38 |
| NC_000002.11:g.128186183_128186184del , CM000664.1:g.128186183_128186184del | GRCh37 |
| NC_000002.10:g.127902653_127902654del | NCBI36 |
| NG_016323.1:g.15188_15189del , LRG_599:g.15188_15189del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.1047_1048del MANE Select | ENSP00000234071.4:p.Lys350GlyfsTer22 | |
| ENST00000234071.7:c.1047_1048del | ENSP00000234071.3:p.Lys350GlyfsTer22 | |
| ENST00000402125.2:c.371_372del | ||
| ENST00000409048.1:c.1149_1150del | ENSP00000386679.1:p.Lys384GlyfsTer22 | |
| NM_000312.3:c.1047_1048del , LRG_599t1:c.1047_1048del | NP_000303.1:p.Lys350GlyfsTer22 | |
| XM_005263715.3:c.1230_1231del | XP_005263772.1:p.Lys411GlyfsTer22 | |
| XM_005263716.3:c.1212_1213del | XP_005263773.1:p.Lys405GlyfsTer22 | |
| XM_005263717.3:c.1110_1111del | XP_005263774.1:p.Lys371GlyfsTer22 | |
| XR_923313.1:n.1332-340_1332-339del | ||
| XM_005263717.4:c.1110_1111del | XP_005263774.1:p.Lys371GlyfsTer22 | |
| XM_017004505.1:c.1290_1291del | XP_016859994.1:p.Lys431GlyfsTer22 | |
| XM_024453002.1:c.1392_1393del | XP_024308770.1:p.Lys465GlyfsTer22 | |
| XM_024453003.1:c.1332_1333del | XP_024308771.1:p.Lys445GlyfsTer22 | |
| XM_024453004.1:c.1230_1231del | XP_024308772.1:p.Lys411GlyfsTer22 | |
| XM_024453005.1:c.1212_1213del | XP_024308773.1:p.Lys405GlyfsTer22 | |
| XM_024453006.1:c.1149_1150del | XP_024308774.1:p.Lys384GlyfsTer22 | |
| XR_001739705.1:n.3607-340_3607-339del | ||
| XR_923313.2:n.4043-340_4043-339del | ||
| NM_000312.4:c.1047_1048del MANE Select | NP_000303.1:p.Lys350GlyfsTer22 | |
| NM_001375602.1:c.1230_1231del | NP_001362531.1:p.Lys411GlyfsTer22 | |
| NM_001375603.1:c.1212_1213del | NP_001362532.1:p.Lys405GlyfsTer22 | |
| NM_001375604.1:c.1110_1111del | NP_001362533.1:p.Lys371GlyfsTer22 | |
| NM_001375605.1:c.1149_1150del | NP_001362534.1:p.Lys384GlyfsTer22 | |
| NM_001375606.1:c.1215_1216del | NP_001362535.1:p.Lys406GlyfsTer22 | |
| NM_001375607.1:c.1233_1234del | NP_001362536.1:p.Lys412GlyfsTer22 | |
| NM_001375608.1:c.990_991del | NP_001362537.1:p.Lys331GlyfsTer22 | |
| NM_001375609.1:c.1023_1024del | NP_001362538.1:p.Lys342GlyfsTer22 | |
| NM_001375610.1:c.1041_1042del | NP_001362539.1:p.Lys348GlyfsTer22 | |
| NM_001375611.1:c.1047_1048del | NP_001362540.1:p.Lys350GlyfsTer22 | |
| NM_001375613.1:c.1047_1048del | NP_001362542.1:p.Lys350GlyfsTer22 |