Linked Data
ClinVar Variation Id:
2721202
ClinVar RCV Id:
RCV003556380
dbSNP Id:
rs755472707
ExAC:
17:37884197 GGGACCA / G
gnomAD v2:
17-37884197-GGGACCA-G
gnomAD v3:
17-39727944-GGGACCA-G
gnomAD v4:
17-39727944-GGGACCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727950_39727955del , CM000679.2:g.39727950_39727955del | GRCh38 |
| NC_000017.10:g.37884203_37884208del , CM000679.1:g.37884203_37884208del | GRCh37 |
| NC_000017.9:g.35137729_35137734del | NCBI36 |
| NG_007503.1:g.44811_44816del , LRG_724:g.44811_44816del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3674_3679del MANE Select | ENSP00000269571.4:p.Gln1225_Asp1226del | |
| ENST00000269571.9:c.3674_3679del | ENSP00000269571.4:p.Gln1225_Asp1226del | |
| ENST00000406381.6:c.3584_3589del | ENSP00000385185.2:p.Gln1195_Asp1196del | |
| ENST00000445658.6:c.2846_2851del | ENSP00000404047.2:p.Gln949_Asp950del | |
| ENST00000541774.5:c.3629_3634del | ENSP00000446466.1:p.Gln1210_Asp1211del | |
| ENST00000578373.5:c.*3464_*3469del | ENSP00000463427.1:n.*3464_*3469del | |
| ENST00000584450.5:c.*253_*258del | ENSP00000463714.1:n.*253_*258del | |
| ENST00000584601.5:c.3584_3589del | ENSP00000462438.1:p.Gln1195_Asp1196del | |
| NM_001005862.2:c.3584_3589del , LRG_724t1:c.3584_3589del | NP_001005862.1:p.Gln1195_Asp1196del | |
| NM_001289936.1:c.3629_3634del , LRG_724t4:c.3629_3634del | NP_001276865.1:p.Gln1210_Asp1211del | |
| NM_001289937.1:c.*253_*258del | NP_001276866.1:n.*253_*258del | |
| NM_004448.3:c.3674_3679del , LRG_724t2:c.3674_3679del | NP_004439.2:p.Gln1225_Asp1226del | |
| NR_110535.1:n.3998_4003del | ||
| XM_024450641.1:c.3812_3817del | XP_024306409.1:p.Gln1271_Asp1272del | |
| XM_024450642.1:c.3767_3772del | XP_024306410.1:p.Gln1256_Asp1257del | |
| XM_024450643.1:c.3722_3727del | XP_024306411.1:p.Gln1241_Asp1242del | |
| NM_001005862.3:c.3584_3589del | NP_001005862.1:p.Gln1195_Asp1196del | |
| NM_001289936.2:c.3629_3634del | NP_001276865.1:p.Gln1210_Asp1211del | |
| NM_001289937.2:c.*253_*258del | NP_001276866.1:n.*253_*258del | |
| NM_001382782.1:c.3584_3589del | NP_001369711.1:p.Gln1195_Asp1196del | |
| NM_001382783.1:c.3584_3589del | NP_001369712.1:p.Gln1195_Asp1196del | |
| NM_001382784.1:c.3791_3796del | NP_001369713.1:p.Gln1264_Asp1265del | |
| NM_001382785.1:c.3776_3781del | NP_001369714.1:p.Gln1259_Asp1260del | |
| NM_001382786.1:c.3755_3760del | NP_001369715.1:p.Gln1252_Asp1253del | |
| NM_001382787.1:c.3749_3754del | NP_001369716.1:p.Gln1250_Asp1251del | |
| NM_001382788.1:c.3704_3709del | NP_001369717.1:p.Gln1235_Asp1236del | |
| NM_001382789.1:c.3695_3700del | NP_001369718.1:p.Gln1232_Asp1233del | |
| NM_001382790.1:c.3671_3676del | NP_001369719.1:p.Gln1224_Asp1225del | |
| NM_001382791.1:c.3665_3670del | NP_001369720.1:p.Gln1222_Asp1223del | |
| NM_001382792.1:c.3638_3643del | NP_001369721.1:p.Gln1213_Asp1214del | |
| NM_001382793.1:c.3632_3637del | NP_001369722.1:p.Gln1211_Asp1212del | |
| NM_001382794.1:c.3632_3637del | NP_001369723.1:p.Gln1211_Asp1212del | |
| NM_001382795.1:c.3626_3631del | NP_001369724.1:p.Gln1209_Asp1210del | |
| NM_001382796.1:c.3587_3592del | NP_001369725.1:p.Gln1196_Asp1197del | |
| NM_001382797.1:c.3575_3580del | NP_001369726.1:p.Gln1192_Asp1193del | |
| NM_001382798.1:c.3518_3523del | NP_001369727.1:p.Gln1173_Asp1174del | |
| NM_001382799.1:c.3494_3499del | NP_001369728.1:p.Gln1165_Asp1166del | |
| NM_001382800.1:c.3488_3493del | NP_001369729.1:p.Gln1163_Asp1164del | |
| NM_001382801.1:c.3470_3475del | NP_001369730.1:p.Gln1157_Asp1158del | |
| NM_001382802.1:c.3416_3421del | NP_001369731.1:p.Gln1139_Asp1140del | |
| NM_001382803.1:c.*253_*258del | NP_001369732.1:n.*253_*258del | |
| NM_001382804.1:c.2846_2851del | NP_001369733.1:p.Gln949_Asp950del | |
| NM_001382805.1:c.2723_2728del | NP_001369734.1:p.Gln908_Asp909del | |
| NM_001382806.1:c.2636_2641del | NP_001369735.1:p.Gln879_Asp880del | |
| NM_004448.4:c.3674_3679del MANE Select | NP_004439.2:p.Gln1225_Asp1226del | |
| NR_110535.2:n.3912_3917del |