Linked Data
ClinVar Variation Id:
1453446
ClinVar RCV Id:
RCV002037913
dbSNP Id:
rs1562361751
gnomAD v2:
6-131904883-GCTACT-G
gnomAD v4:
6-131583743-GCTACT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131583746_131583750del , CM000668.2:g.131583746_131583750del | GRCh38 |
| NC_000006.11:g.131904886_131904890del , CM000668.1:g.131904886_131904890del | GRCh37 |
| NC_000006.10:g.131946579_131946583del | NCBI36 |
| NG_007086.2:g.15522_15526del | |
| NG_031860.1:g.49476_49480del | |
| NG_031860.2:g.49476_49480del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368087.8:c.807_811del (ARG1) MANE Select | ENSP00000357066.3:p.Leu270ArgfsTer? | |
| ENST00000640973.1:c.605-56_605-52del (ARG1) | ENSP00000492623.1:n.605-56_605-52del | |
| ENST00000672233.1:c.753_757del (ARG1) | ENSP00000499826.1:p.Leu252ArgfsTer? | |
| ENST00000673234.1:c.*694_*698del (ARG1) | ENSP00000499885.1:n.*694_*698del | |
| ENST00000673427.1:c.552_556del (ARG1) | ENSP00000500160.1:p.Leu185ArgfsTer? | |
| ENST00000354577.8:c.4095+3961_4095+3965del (MED23) | ENSP00000346588.4:n.4095+3961_4095+3965de... | |
| ENST00000356962.2:c.831_835del (ARG1) | ENSP00000349446.2:p.Leu278ArgfsTer? | |
| ENST00000368087.7:c.807_811del (ARG1) | ENSP00000357066.3:p.Leu270ArgfsTer? | |
| NM_000045.3:c.807_811del (ARG1) | NP_000036.2:p.Leu270ArgfsTer? | |
| NM_001244438.1:c.831_835del (ARG1) | NP_001231367.1:p.Leu278ArgfsTer? | |
| NM_001270521.1:c.4077+3961_4077+3965del (MED23) | NP_001257450.1:n.4077+3961_4077+3965del | |
| NM_015979.3:c.4095+3961_4095+3965del (MED23) | NP_057063.2:n.4095+3961_4095+3965del | |
| XM_011535801.1:c.552_556del (ARG1) | XP_011534103.1:p.Leu185ArgfsTer? | |
| XM_011535801.2:c.552_556del (ARG1) | XP_011534103.1:p.Leu185ArgfsTer? | |
| NM_000045.4:c.807_811del (ARG1) MANE Select | NP_000036.2:p.Leu270ArgfsTer? | |
| NM_001244438.2:c.831_835del (ARG1) | NP_001231367.1:p.Leu278ArgfsTer? | |
| NM_001270521.2:c.4077+3961_4077+3965del (MED23) | NP_001257450.1:n.4077+3961_4077+3965del | |
| NM_001369020.1:c.552_556del (ARG1) | NP_001355949.1:p.Leu185ArgfsTer? | |
| NM_015979.4:c.4095+3961_4095+3965del (MED23) | NP_057063.2:n.4095+3961_4095+3965del | |
| NR_160934.1:n.791_795del (ARG1) |