UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
200799
ClinVar RCV Id:
RCV003227699
dbSNP Id:
rs794728504
gnomAD v4:
7-150947462-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947466del , CM000669.2:g.150947466del | GRCh38 |
| NC_000007.13:g.150644554del , CM000669.1:g.150644554del | GRCh37 |
| NC_000007.12:g.150275487del | NCBI36 |
| NG_008916.1:g.35464del , LRG_288:g.35464del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684241.1:n.3850del | ||
| ENST00000262186.10:c.3017del MANE Select | ENSP00000262186.5:p.Gly1006AlafsTer? | |
| ENST00000330883.9:c.1997del | ENSP00000328531.4:p.Gly666AlafsTer? | |
| ENST00000262186.9:c.3017del | ENSP00000262186.5:p.Gly1006AlafsTer? | |
| ENST00000330883.8:c.1997del | ENSP00000328531.4:p.Gly666AlafsTer? | |
| NM_000238.3:c.3017del , LRG_288t1:c.3017del | NP_000229.1:p.Gly1006AlafsTer? | |
| NM_172057.2:c.1997del , LRG_288t3:c.1997del | NP_742054.1:p.Gly666AlafsTer? | |
| XM_011516185.1:c.2717del | XP_011514487.1:p.Gly906AlafsTer? | |
| XM_011516186.1:c.*97del | XP_011514488.1:n.*97del | |
| XM_011516185.2:c.2717del | XP_011514487.1:p.Gly906AlafsTer? | |
| XM_011516186.3:c.*97del | XP_011514488.1:n.*97del | |
| XM_017012195.1:c.2867del | XP_016867684.1:p.Gly956AlafsTer? | |
| XM_017012196.1:c.2840del | XP_016867685.1:p.Gly947AlafsTer? | |
| NM_000238.4:c.3017del MANE Select | NP_000229.1:p.Gly1006AlafsTer? | |
| NM_172057.3:c.1997del | NP_742054.1:p.Gly666AlafsTer? |