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:
54896
dbSNP Id:
rs80357781
ExAC:
17:41244067 CCTTT / C
gnomAD v2:
17-41244067-CCTTT-C
gnomAD v4:
17-43092050-CCTTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43092051_43092054del , CM000679.2:g.43092051_43092054del | GRCh38 |
| NC_000017.10:g.41244068_41244071del , CM000679.1:g.41244068_41244071del | GRCh37 |
| NC_000017.9:g.38497594_38497597del | NCBI36 |
| NG_005905.2:g.125930_125933del , LRG_292:g.125930_125933del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.3541_3544del | ||
| ENST00000461574.2:c.3477_3480del | ENSP00000417241.2:p.Ile1159MetfsTer? | |
| ENST00000470026.6:c.3477_3480del | ENSP00000419274.2:p.Ile1159MetfsTer? | |
| ENST00000473961.6:c.3351_3354del | ENSP00000420201.2:p.Ile1117MetfsTer? | |
| ENST00000476777.6:c.3474_3477del | ENSP00000417554.2:p.Ile1158MetfsTer? | |
| ENST00000477152.6:c.3399_3402del | ENSP00000419988.2:p.Ile1133MetfsTer? | |
| ENST00000478531.6:c.785-1022_785-1019del | ENSP00000420412.2:n.785-1022_785-1019del | |
| ENST00000489037.2:c.3399_3402del | ENSP00000420781.2:p.Ile1133MetfsTer? | |
| ENST00000493919.6:c.647-1022_647-1019del | ENSP00000418819.2:n.647-1022_647-1019del | |
| ENST00000494123.6:c.3477_3480del | ENSP00000419103.2:p.Ile1159MetfsTer? | |
| ENST00000497488.2:c.2589_2592del | ENSP00000418986.2:p.Ile863MetfsTer? | |
| ENST00000618469.2:c.3477_3480del | ENSP00000478114.2:p.Ile1159MetfsTer? | |
| ENST00000634433.2:c.3354_3357del | ENSP00000489431.2:p.Ile1118MetfsTer? | |
| ENST00000644379.2:c.3477_3480del | ENSP00000496570.2:p.Ile1159MetfsTer? | |
| ENST00000644555.2:c.647-1022_647-1019del | ENSP00000494614.2:n.647-1022_647-1019del | |
| ENST00000652672.2:c.3336_3339del | ENSP00000498906.2:p.Ile1112MetfsTer? | |
| ENST00000484087.6:c.665-1022_665-1019del | ENSP00000419481.2:n.665-1022_665-1019del | |
| ENST00000700182.1:c.707-1022_707-1019del | ENSP00000514849.1:n.707-1022_707-1019del | |
| ENST00000357654.9:c.3477_3480del MANE Select | ENSP00000350283.3:p.Ile1159MetfsTer? | |
| ENST00000471181.7:c.3477_3480del | ENSP00000418960.2:p.Ile1159MetfsTer? | |
| ENST00000352993.7:c.671-1022_671-1019del | ENSP00000312236.5:n.671-1022_671-1019del | |
| ENST00000354071.7:c.3477_3480del | ENSP00000326002.7:p.Ile1159MetfsTer? | |
| ENST00000357654.7:c.3477_3480del | ENSP00000350283.3:p.Ile1159MetfsTer? | |
| ENST00000461221.5:c.*3260_*3263del | ENSP00000418548.1:n.*3260_*3263del | |
| ENST00000468300.5:c.788-1022_788-1019del | ENSP00000417148.1:n.788-1022_788-1019del | |
| ENST00000471181.6:c.3477_3480del | ENSP00000418960.2:p.Ile1159MetfsTer? | |
| ENST00000478531.5:c.785-1022_785-1019del | ENSP00000420412.1:n.785-1022_785-1019del | |
| ENST00000484087.5:c.410-1022_410-1019del | ENSP00000419481.1:n.410-1022_410-1019del | |
| ENST00000487825.5:c.413-1022_413-1019del | ENSP00000418212.1:n.413-1022_413-1019del | |
| ENST00000491747.6:c.788-1022_788-1019del | ENSP00000420705.2:n.788-1022_788-1019del | |
| ENST00000493795.5:c.3336_3339del | ENSP00000418775.1:p.Ile1112MetfsTer? | |
| ENST00000493919.5:c.647-1022_647-1019del | ENSP00000418819.1:n.647-1022_647-1019del | |
| ENST00000586385.5:c.5-28103_5-28100del | ENSP00000465818.1:n.5-28103_5-28100del | |
| ENST00000591534.5:c.-43-17533_-43-17530del | ENSP00000467329.1:n.-43-17533_-43-17530del | |
| ENST00000591849.5:c.-99+33217_-99+33220del | ENSP00000465347.1:n.-99+33217_-99+33220del | |
| NM_007294.3:c.3477_3480del , LRG_292t1:c.3477_3480del | NP_009225.1:p.Ile1159MetfsTer? | |
| NM_007297.3:c.3336_3339del | NP_009228.2:p.Ile1112MetfsTer? | |
| NM_007298.3:c.788-1022_788-1019del | NP_009229.2:n.788-1022_788-1019del | |
| NM_007299.3:c.788-1022_788-1019del | NP_009230.2:n.788-1022_788-1019del | |
| NM_007300.3:c.3477_3480del | NP_009231.2:p.Ile1159MetfsTer? | |
| NR_027676.1:n.3613_3616del | ||
| NM_007294.4:c.3477_3480del MANE Select | NP_009225.1:p.Ile1159MetfsTer? | |
| NM_007297.4:c.3336_3339del | NP_009228.2:p.Ile1112MetfsTer? | |
| NM_007299.4:c.788-1022_788-1019del | NP_009230.2:n.788-1022_788-1019del | |
| NM_007300.4:c.3477_3480del | NP_009231.2:p.Ile1159MetfsTer? | |
| NR_027676.2:n.3654_3657del |