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:
21636
ClinVar RCV Id:
RCV000020826
dbSNP Id:
rs199422196
ExAC:
1:197059406 TAG / T
gnomAD v2:
1-197059406-TAG-T
gnomAD v4:
1-197090276-TAG-T
MyVariant Identifiers:
chr1:g.197059409_197059410del (hg19)
chr1:g.197059407_197059408del (hg19)
chr1:g.197090279_197090280del (hg38)
chr1:g.197090277_197090278del (hg38)
PubMed:
PMID:20301772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197090279_197090280del , CM000663.2:g.197090279_197090280del | GRCh38 |
| NC_000001.10:g.197059409_197059410del , CM000663.1:g.197059409_197059410del | GRCh37 |
| NC_000001.9:g.195326032_195326033del | NCBI36 |
| NG_015867.1:g.61417_61418del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367408.6:n.3034_3035del | ||
| ENST00000367409.9:c.9747_9748del MANE Select | ENSP00000356379.4:p.Tyr3250GlnfsTer14 | |
| ENST00000680265.1:c.9969_9970del | ENSP00000505384.1:p.Tyr3324GlnfsTer14 | |
| ENST00000680710.1:c.9723_9724del | ENSP00000506676.1:p.Tyr3242GlnfsTer14 | |
| ENST00000294732.11:c.4992_4993del | ENSP00000294732.7:p.Tyr1665GlnfsTer14 | |
| ENST00000367408.5:c.2742_2743del | ENSP00000356378.1:p.Tyr915GlnfsTer14 | |
| ENST00000367409.8:c.9747_9748del | ENSP00000356379.4:p.Tyr3250GlnfsTer14 | |
| ENST00000612785.1:c.3705_3706del | ENSP00000479244.1:p.Tyr1236GlnfsTer14 | |
| NM_001206846.1:c.4992_4993del | NP_001193775.1:p.Tyr1665GlnfsTer14 | |
| NM_018136.4:c.9747_9748del | NP_060606.3:p.Tyr3250GlnfsTer14 | |
| NM_018136.5:c.9747_9748del MANE Select | NP_060606.3:p.Tyr3250GlnfsTer14 | |
| NM_001206846.2:c.4992_4993del | NP_001193775.1:p.Tyr1665GlnfsTer14 |