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:
177909
ClinVar RCV Id:
RCV000154566
dbSNP Id:
rs727504395
MyVariant Identifiers:
chr7:g.55242481_55242507delinsGAT (hg19)
chr7:g.55174788_55174814delinsGAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55174788_55174814delinsGAT , CM000669.2:g.55174788_55174814delinsGAT | GRCh38 |
| NC_000007.13:g.55242481_55242507delinsGAT , CM000669.1:g.55242481_55242507delinsGAT | GRCh37 |
| NC_000007.12:g.55209975_55210001delinsGAT | NCBI36 |
| NG_007726.3:g.160757_160783delinsGAT , LRG_304:g.160757_160783delinsGAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2092_2118delinsGAT | ENSP00000413354.2:p.Thr698_Ile706delinsAs... | |
| ENST00000700145.1:c.600_626delinsGAT | ||
| ENST00000275493.7:c.2251_2277delinsGAT MANE Select | ENSP00000275493.2:p.Thr751_Ile759delinsAs... | |
| ENST00000275493.6:c.2251_2277delinsGAT | ENSP00000275493.2:p.Thr751_Ile759delinsAs... | |
| ENST00000442591.5:c.*28+1860_*28+1886delinsGAT | ENSP00000410031.1:n.*28+1860_*28+1886deli... | |
| ENST00000454757.6:c.2116_2142delinsGAT | ENSP00000395243.3:p.Thr706_Ile714delinsAs... | |
| ENST00000455089.5:c.2116_2142delinsGAT | ENSP00000415559.1:p.Thr706_Ile714delinsAs... | |
| NM_005228.3:c.2251_2277delinsGAT , LRG_304t1:c.2251_2277delinsGAT | NP_005219.2:p.Thr751_Ile759delinsAsp | |
| NM_001346897.1:c.2116_2142delinsGAT | NP_001333826.1:p.Thr706_Ile714delinsAsp | |
| NM_001346898.1:c.2251_2277delinsGAT | NP_001333827.1:p.Thr751_Ile759delinsAsp | |
| NM_001346899.1:c.2116_2142delinsGAT | NP_001333828.1:p.Thr706_Ile714delinsAsp | |
| NM_001346900.1:c.2092_2118delinsGAT | NP_001333829.1:p.Thr698_Ile706delinsAsp | |
| NM_001346941.1:c.1450_1476delinsGAT | NP_001333870.1:p.Thr484_Ile492delinsAsp | |
| NM_005228.4:c.2251_2277delinsGAT | NP_005219.2:p.Thr751_Ile759delinsAsp | |
| NM_005228.5:c.2251_2277delinsGAT MANE Select | NP_005219.2:p.Thr751_Ile759delinsAsp | |
| NM_001346897.2:c.2116_2142delinsGAT | NP_001333826.1:p.Thr706_Ile714delinsAsp | |
| NM_001346898.2:c.2251_2277delinsGAT | NP_001333827.1:p.Thr751_Ile759delinsAsp | |
| NM_001346900.2:c.2092_2118delinsGAT | NP_001333829.1:p.Thr698_Ile706delinsAsp | |
| NM_001346941.2:c.1450_1476delinsGAT | NP_001333870.1:p.Thr484_Ile492delinsAsp | |
| NM_001346899.2:c.2116_2142delinsGAT | NP_001333828.1:p.Thr706_Ile714delinsAsp |