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:
214400
ClinVar RCV Id:
RCV000198761
dbSNP Id:
rs863223987
MyVariant Identifiers:
chr1:g.241667344_241667346delinsAGT (hg19)
chr1:g.241504044_241504046delinsAGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241504044_241504046delinsAGT , CM000663.2:g.241504044_241504046delinsAGT | GRCh38 |
| NC_000001.10:g.241667344_241667346delinsAGT , CM000663.1:g.241667344_241667346delinsAGT | GRCh37 |
| NC_000001.9:g.239733967_239733969delinsAGT | NCBI36 |
| NG_012338.1:g.20709_20711delinsACT , LRG_504:g.20709_20711delinsACT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1607_1609delinsACT | ||
| ENST00000682162.1:c.1133_1135delinsACT | ENSP00000508203.1:n.1133_1135delinsACT | |
| ENST00000682567.1:n.1181_1183delinsACT | ||
| ENST00000683521.1:c.1104_1106delinsACT | ENSP00000506864.1:p.Met368_Pro369delinsIleLeu | |
| ENST00000684161.1:n.2319_2321delinsACT | ||
| ENST00000684483.1:c.*500_*502delinsACT | ENSP00000507894.1:n.*500_*502delinsACT | |
| ENST00000366560.4:c.1104_1106delinsACT MANE Select | ENSP00000355518.4:p.Met368_Pro369delinsIleLeu | |
| ENST00000366560.3:c.1104_1106delinsACT | ENSP00000355518.3:p.Met368_Pro369delinsIleLeu | |
| NM_000143.3:c.1104_1106delinsACT , LRG_504t1:c.1104_1106delinsACT | NP_000134.2:p.Met368_Pro369delinsIleLeu | |
| XM_011544132.1:c.876_878delinsACT | XP_011542434.1:p.Met292_Pro293delinsIleLeu | |
| XM_011544132.2:c.876_878delinsACT | XP_011542434.1:p.Met292_Pro293delinsIleLeu | |
| NM_000143.4:c.1104_1106delinsACT MANE Select | NP_000134.2:p.Met368_Pro369delinsIleLeu |