WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
64678
ClinVar RCV Id:
RCV000054829
dbSNP Id:
rs397514764
PubMed:
PMID:19419417
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45012271_45012280del , CM000663.2:g.45012271_45012280del | GRCh38 |
| NC_000001.10:g.45477943_45477952del , CM000663.1:g.45477943_45477952del | GRCh37 |
| NC_000001.9:g.45250530_45250539del | NCBI36 |
| NG_007122.2:g.5114_5123del | |
| NG_033058.1:g.4076_4085del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000246337.9:c.6_15del MANE Select | ENSP00000246337.4:p.Glu2AspfsTer10 | |
| ENST00000434478.6:c.6_15del | ENSP00000404489.2:p.Glu2AspfsTer10 | |
| ENST00000491773.6:c.-150_-141del | ENSP00000498551.1:n.-150_-141del | |
| ENST00000636293.1:c.6_15del | ENSP00000490710.1:p.Glu2AspfsTer10 | |
| ENST00000636836.1:c.6_15del | ENSP00000490594.1:p.Glu2AspfsTer10 | |
| ENST00000650713.1:c.-86+186_-86+195del | ENSP00000499014.1:n.-86+186_-86+195del | |
| ENST00000651476.1:c.-150_-141del | ENSP00000498668.1:n.-150_-141del | |
| ENST00000652165.1:c.-136+186_-136+195del | ENSP00000498295.1:n.-136+186_-136+195del | |
| ENST00000652287.1:c.6_15del | ENSP00000498413.1:p.Glu2AspfsTer10 | |
| ENST00000246337.8:c.6_15del | ENSP00000246337.4:p.Glu2AspfsTer10 | |
| ENST00000434478.5:c.6_15del | ENSP00000404489.1:p.Glu2AspfsTer10 | |
| ENST00000460334.5:n.14_23del | ||
| ENST00000460906.5:n.4_13del | ||
| ENST00000461035.5:n.60_69del | ||
| ENST00000462688.5:n.7_16del | ||
| ENST00000463092.5:n.87_96del | ||
| ENST00000490385.5:n.4_13del | ||
| ENST00000491300.5:n.56_65del | ||
| ENST00000491773.5:n.110_119del | ||
| ENST00000494399.5:n.20_29del | ||
| NM_000374.4:c.6_15del | NP_000365.3:p.Glu2AspfsTer10 | |
| NR_036510.1:n.139_148del | ||
| XM_005271169.1:c.-280_-271del | XP_005271226.1:n.-280_-271del | |
| XM_005271170.1:c.-230_-221del | XP_005271227.1:n.-230_-221del | |
| XM_011542080.1:c.6_15del | XP_011540382.1:p.Glu2AspfsTer10 | |
| XM_011542081.1:c.-150_-141del | XP_011540383.1:n.-150_-141del | |
| NM_000374.5:c.6_15del MANE Select | NP_000365.3:p.Glu2AspfsTer10 | |
| NR_158184.1:n.18_27del | ||
| NR_158185.1:n.18_27del | ||
| NR_036510.2:n.18_27del |