Linked Data
ClinVar Variation Id:
91015
ClinVar RCV Id:
RCV000076517
RCV000201958
RCV000213582
RCV000548456
RCV000616983
RCV001002172
RCV003162497
dbSNP Id:
rs63751618
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47480870_47480871del , CM000664.2:g.47480870_47480871del | GRCh38 |
| NC_000002.11:g.47708009_47708010del , CM000664.1:g.47708009_47708010del | GRCh37 |
| NC_000002.10:g.47561513_47561514del | NCBI36 |
| NG_007110.2:g.82747_82748del , LRG_218:g.82747_82748del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644900.2:c.2633_2634del | ENSP00000495641.2:p.Glu878GlyfsTer19 | |
| ENST00000233146.7:c.2633_2634del MANE Select | ENSP00000233146.2:p.Glu878AlafsTer3 | |
| ENST00000543555.6:c.2435_2436del | ENSP00000442697.1:p.Glu812AlafsTer3 | |
| ENST00000644092.1:c.*933_*934del | ENSP00000496351.1:n.*933_*934del | |
| ENST00000644900.1:c.486_487del | ||
| ENST00000645339.1:c.2633_2634del | ENSP00000496441.1:p.Asn879ProfsTer? | |
| ENST00000645506.1:c.2633_2634del | ENSP00000495455.1:p.Asn879ProfsTer? | |
| ENST00000646415.1:c.2633_2634del | ENSP00000495543.1:p.Asn879ProfsTer? | |
| ENST00000233146.6:c.2633_2634del | ENSP00000233146.2:p.Glu878AlafsTer3 | |
| ENST00000406134.5:c.2633_2634del | ENSP00000384199.1:p.Asn879ProfsTer? | |
| ENST00000461394.5:n.74_75del | ||
| ENST00000543555.5:c.2435_2436del | ENSP00000442697.1:p.Glu812AlafsTer3 | |
| ENST00000610696.4:c.*1029_*1030del | ENSP00000483159.1:n.*1029_*1030del | |
| ENST00000613514.4:c.*1173_*1174del | ENSP00000484137.1:n.*1173_*1174del | |
| ENST00000617333.3:c.*1399_*1400del | ENSP00000482468.1:n.*1399_*1400del | |
| ENST00000617938.4:c.*1605_*1606del | ENSP00000481158.1:n.*1605_*1606del | |
| ENST00000621359.2:c.*199_*200del | ENSP00000481416.1:n.*199_*200del | |
| NM_000251.2:c.2633_2634del , LRG_218t1:c.2633_2634del | NP_000242.1:p.Glu878AlafsTer3 | |
| NM_001258281.1:c.2435_2436del | NP_001245210.1:p.Glu812AlafsTer3 | |
| XM_005264332.2:c.2633_2634del | XP_005264389.2:p.Asn879ProfsTer? | |
| XM_011532867.1:c.2633_2634del | XP_011531169.1:p.Asn879ProfsTer? | |
| XR_939685.1:n.2705_2706del | ||
| XM_005264332.4:c.2633_2634del | XP_005264389.2:p.Asn879ProfsTer? | |
| XM_011532867.2:c.2633_2634del | XP_011531169.1:p.Asn879ProfsTer? | |
| XR_001738747.2:n.2695_2696del | ||
| XR_939685.2:n.2695_2696del | ||
| NM_000251.3:c.2633_2634del MANE Select | NP_000242.1:p.Glu878AlafsTer3 |