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:
2170877
ClinVar RCV Id:
RCV003080766
dbSNP Id:
rs1341195668
gnomAD v2:
22-19754243-C-CCCGCACGCGCAT
gnomAD v3:
22-19766720-C-CCCGCACGCGCAT
gnomAD v4:
22-19766720-C-CCCGCACGCGCAT
MyVariant Identifiers:
chr22:g.19754243_19754244insCCGCACGCGCAT (hg19)
chr22:g.19766720_19766721insCCGCACGCGCAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19766727_19766738dup , CM000684.2:g.19766727_19766738dup | GRCh38 |
| NC_000022.10:g.19754250_19754261dup , CM000684.1:g.19754250_19754261dup | GRCh37 |
| NC_000022.9:g.18134250_18134261dup | NCBI36 |
| NG_009229.1:g.15025_15036dup , LRG_226:g.15025_15036dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649276.2:c.1375_1386dup MANE Select | ENSP00000497003.1:p.His462_His463insAlaHi... | |
| ENST00000329705.11:c.1009+725_1009+736dup | ENSP00000331176.7:n.1009+725_1009+736dup | |
| ENST00000332710.8:c.1348_1359dup | ENSP00000331791.4:p.His453_His454insAlaHi... | |
| ENST00000359500.7:c.1009+725_1009+736dup | ENSP00000352483.3:n.1009+725_1009+736dup | |
| ENST00000621939.1:c.1009+725_1009+736dup | ENSP00000477982.1:n.1009+725_1009+736dup | |
| NM_005992.1:c.1009+725_1009+736dup | NP_005983.1:n.1009+725_1009+736dup | |
| NM_080646.1:c.1009+725_1009+736dup | NP_542377.1:n.1009+725_1009+736dup | |
| NM_080647.1:c.1348_1359dup , LRG_226t1:c.1348_1359dup | NP_542378.1:p.His453_His454insAlaHisProHi... | |
| XM_006724312.1:c.1348_1359dup | XP_006724375.1:p.His453_His454insAlaHisPr... | |
| XM_011530351.1:c.1375_1386dup | XP_011528653.1:p.His462_His463insAlaHisPr... | |
| XM_006724312.2:c.1348_1359dup | XP_006724375.1:p.His453_His454insAlaHisPr... | |
| XM_017028925.1:c.1498_1509dup | XP_016884414.1:p.His503_His504insAlaHisPr... | |
| XM_017028926.1:c.1348_1359dup | XP_016884415.1:p.His453_His454insAlaHisPr... | |
| XM_017028927.1:c.703_714dup | XP_016884416.1:p.His238_His239insAlaHisPr... | |
| XM_017028928.1:c.1159+725_1159+736dup | XP_016884417.1:n.1159+725_1159+736dup | |
| NM_001379200.1:c.1375_1386dup MANE Select | NP_001366129.1:p.His462_His463insAlaHisPr... | |
| NM_080646.2:c.1009+725_1009+736dup | NP_542377.1:n.1009+725_1009+736dup |