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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128400721_128400729delinsGAGTGTAGC , CM000669.2:g.128400721_128400729delinsGAGTGTAGC | GRCh38 |
| NC_000007.13:g.128040775_128040783delinsGAGTGTAGC , CM000669.1:g.128040775_128040783delinsGAGTGTAGC | GRCh37 |
| NC_000007.12:g.127828011_127828019delinsGAGTGTAGC | NCBI36 |
| NG_009194.1:g.14254_14262delinsGCTACACTC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348127.11:c.471+88_471+96delinsGCTACACTC | ENSP00000265385.8:n.471+88_471+96delinsGC... | |
| ENST00000484496.6:n.435+88_435+96delinsGCTACACTC | ||
| ENST00000338791.11:c.579+88_579+96delinsGCTACACTC MANE Select | ENSP00000345096.6:n.579+88_579+96delinsGC... | |
| ENST00000648462.1:c.211+103_211+111delinsGCTACACTC | ||
| ENST00000338791.10:c.579+88_579+96delinsGCTACACTC | ENSP00000345096.6:n.579+88_579+96delinsGC... | |
| ENST00000348127.10:c.471+88_471+96delinsGCTACACTC | ENSP00000265385.8:n.471+88_471+96delinsGC... | |
| ENST00000354269.9:c.549+88_549+96delinsGCTACACTC | ENSP00000346219.5:n.549+88_549+96delinsGC... | |
| ENST00000419067.6:c.480+88_480+96delinsGCTACACTC | ENSP00000399400.2:n.480+88_480+96delinsGC... | |
| ENST00000469328.5:c.325+88_325+96delinsGCTACACTC | ||
| ENST00000470772.5:c.324+88_324+96delinsGCTACACTC | ENSP00000417296.1:n.324+88_324+96delinsGC... | |
| ENST00000480861.5:c.309+103_309+111delinsGCTACACTC | ENSP00000420185.1:n.309+103_309+111delins... | |
| ENST00000484496.5:c.435+88_435+96delinsGCTACACTC | ENSP00000418742.1:n.435+88_435+96delinsGC... | |
| ENST00000489263.1:c.298-190_298-182delinsGCTACACTC | ENSP00000418592.1:n.298-190_298-182delins... | |
| ENST00000496200.5:c.250-190_250-182delinsGCTACACTC | ENSP00000420803.1:n.250-190_250-182delins... | |
| ENST00000496487.5:n.487_495delinsGCTACACTC | ||
| ENST00000497868.5:c.372+88_372+96delinsGCTACACTC | ENSP00000419609.1:n.372+88_372+96delinsGC... | |
| ENST00000626419.2:c.324+88_324+96delinsGCTACACTC | ENSP00000486056.1:n.324+88_324+96delinsGC... | |
| NM_000883.3:c.579+88_579+96delinsGCTACACTC | NP_000874.2:n.579+88_579+96delinsGCTACACT... | |
| NM_001102605.1:c.549+88_549+96delinsGCTACACTC | NP_001096075.1:n.549+88_549+96delinsGCTAC... | |
| NM_001142573.1:c.324+88_324+96delinsGCTACACTC | NP_001136045.1:n.324+88_324+96delinsGCTAC... | |
| NM_001142574.1:c.309+103_309+111delinsGCTACACTC | NP_001136046.1:n.309+103_309+111delinsGCT... | |
| NM_001142575.1:c.250-190_250-182delinsGCTACACTC | NP_001136047.1:n.250-190_250-182delinsGCT... | |
| NM_001142576.1:c.480+88_480+96delinsGCTACACTC | NP_001136048.1:n.480+88_480+96delinsGCTAC... | |
| NM_001304521.1:c.372+88_372+96delinsGCTACACTC | NP_001291450.1:n.372+88_372+96delinsGCTAC... | |
| NM_183243.2:c.471+88_471+96delinsGCTACACTC | NP_899066.1:n.471+88_471+96delinsGCTACACT... | |
| XM_005250314.1:c.348+88_348+96delinsGCTACACTC | XP_005250371.1:n.348+88_348+96delinsGCTAC... | |
| XM_006715967.1:c.579+88_579+96delinsGCTACACTC | XP_006716030.1:n.579+88_579+96delinsGCTAC... | |
| XM_006715968.1:c.549+88_549+96delinsGCTACACTC | XP_006716031.1:n.549+88_549+96delinsGCTAC... | |
| XM_006715969.1:c.471+88_471+96delinsGCTACACTC | XP_006716032.1:n.471+88_471+96delinsGCTAC... | |
| XM_006715970.2:c.372+88_372+96delinsGCTACACTC | XP_006716033.1:n.372+88_372+96delinsGCTAC... | |
| XM_006715971.1:c.348+88_348+96delinsGCTACACTC | XP_006716034.1:n.348+88_348+96delinsGCTAC... | |
| XM_017012172.1:c.348+88_348+96delinsGCTACACTC | XP_016867661.1:n.348+88_348+96delinsGCTAC... | |
| XM_017012173.1:c.549+88_549+96delinsGCTACACTC | XP_016867662.1:n.549+88_549+96delinsGCTAC... | |
| XM_024446755.1:c.549+88_549+96delinsGCTACACTC | XP_024302523.1:n.549+88_549+96delinsGCTAC... | |
| XM_024446756.1:c.471+88_471+96delinsGCTACACTC | XP_024302524.1:n.471+88_471+96delinsGCTAC... | |
| XM_024446757.1:c.372+88_372+96delinsGCTACACTC | XP_024302525.1:n.372+88_372+96delinsGCTAC... | |
| XM_024446758.1:c.348+88_348+96delinsGCTACACTC | XP_024302526.1:n.348+88_348+96delinsGCTAC... | |
| NM_000883.4:c.579+88_579+96delinsGCTACACTC MANE Select | NP_000874.2:n.579+88_579+96delinsGCTACACT... | |
| NM_001102605.2:c.549+88_549+96delinsGCTACACTC | NP_001096075.1:n.549+88_549+96delinsGCTAC... | |
| NM_001142573.2:c.324+88_324+96delinsGCTACACTC | NP_001136045.1:n.324+88_324+96delinsGCTAC... | |
| NM_001142574.2:c.309+103_309+111delinsGCTACACTC | NP_001136046.1:n.309+103_309+111delinsGCT... | |
| NM_001142575.2:c.250-190_250-182delinsGCTACACTC | NP_001136047.1:n.250-190_250-182delinsGCT... | |
| NM_001142576.2:c.480+88_480+96delinsGCTACACTC | NP_001136048.1:n.480+88_480+96delinsGCTAC... | |
| NM_001304521.2:c.372+88_372+96delinsGCTACACTC | NP_001291450.1:n.372+88_372+96delinsGCTAC... | |
| NM_183243.3:c.471+88_471+96delinsGCTACACTC | NP_899066.1:n.471+88_471+96delinsGCTACACT... |