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.45038319_45038345delinsCATGAGAAGGTGACAGAGAGGCGCCCT , CM000669.2:g.45038319_45038345delinsCATGAGAAGGTGACAGAGAGGCGCCCT | GRCh38 |
| NC_000007.13:g.45077918_45077944delinsCATGAGAAGGTGACAGAGAGGCGCCCT , CM000669.1:g.45077918_45077944delinsCATGAGAAGGTGACAGAGAGGCGCCCT | GRCh37 |
| NC_000007.12:g.45044443_45044469delinsCATGAGAAGGTGACAGAGAGGCGCCCT | NCBI36 |
| NG_016295.1:g.43132_43158delinsCATGAGAAGGTGACAGAGAGGCGCCCT , LRG_664:g.43132_43158delinsCATGAGAAGGTGACAGAGAGGCGCCCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258781.11:c.97_123delinsCATGAGAAGGTGACAGAGAGGCGCCCT MANE Select | ENSP00000258781.7:p.His33= | |
| ENST00000648329.1:c.97_123delinsCATGAGAAGGTGACAGAGAGGCGCCCT | ENSP00000496916.1:p.His33= | |
| ENST00000258781.10:c.97_123delinsCATGAGAAGGTGACAGAGAGGCGCCCT | ENSP00000258781.6:p.His33= | |
| ENST00000381112.7:c.160_186delinsCATGAGAAGGTGACAGAGAGGCGCCCT | ENSP00000370503.3:p.His54= | |
| ENST00000461377.5:n.450_476delinsCATGAGAAGGTGACAGAGAGGCGCCCT | ||
| ENST00000472223.5:n.164_190delinsCATGAGAAGGTGACAGAGAGGCGCCCT | ||
| ENST00000474617.1:c.79_105delinsCATGAGAAGGTGACAGAGAGGCGCCCT | ENSP00000419474.1:p.His27= | |
| ENST00000475551.5:c.79_105delinsCATGAGAAGGTGACAGAGAGGCGCCCT | ENSP00000417180.1:p.His27= | |
| ENST00000476594.1:n.59_85delinsCATGAGAAGGTGACAGAGAGGCGCCCT | ||
| ENST00000478169.5:n.319_345delinsCATGAGAAGGTGACAGAGAGGCGCCCT | ||
| ENST00000478582.5:n.308_334delinsCATGAGAAGGTGACAGAGAGGCGCCCT | ||
| ENST00000480658.5:n.193_219delinsCATGAGAAGGTGACAGAGAGGCGCCCT | ||
| ENST00000482714.5:n.126+10522_126+10548delinsCATGAGAAGGTGACAGAGAGGCGCCCT | ||
| ENST00000488727.5:c.97_123delinsCATGAGAAGGTGACAGAGAGGCGCCCT | ENSP00000417251.1:p.His33= | |
| ENST00000492883.5:n.193_219delinsCATGAGAAGGTGACAGAGAGGCGCCCT | ||
| ENST00000541586.5:c.31-25599_31-25573delinsCATGAGAAGGTGACAGAGAGGCGCCCT | ENSP00000444725.1:n.31-25599_31-25573deli... | |
| ENST00000544363.5:c.97_123delinsCATGAGAAGGTGACAGAGAGGCGCCCT | ENSP00000438035.1:p.His33= | |
| NM_001029835.2:c.160_186delinsCATGAGAAGGTGACAGAGAGGCGCCCT , LRG_664t1:c.160_186delinsCATGAGAAGGTGACAGAGAGGCGCCCT | NP_001025006.1:p.His54= | |
| NM_001167934.1:c.31-25599_31-25573delinsCATGAGAAGGTGACAGAGAGGCGCCCT | NP_001161406.1:n.31-25599_31-25573delinsC... | |
| NM_001167935.1:c.97_123delinsCATGAGAAGGTGACAGAGAGGCGCCCT | NP_001161407.1:p.His33= | |
| NM_031443.3:c.97_123delinsCATGAGAAGGTGACAGAGAGGCGCCCT , LRG_664t2:c.97_123delinsCATGAGAAGGTGACAGAGAGGCGCCCT | NP_113631.1:p.His33= | |
| NR_030770.1:n.179_205delinsCATGAGAAGGTGACAGAGAGGCGCCCT | ||
| XM_006715785.2:c.93+10522_93+10548delinsCATGAGAAGGTGACAGAGAGGCGCCCT | XP_006715848.1:n.93+10522_93+10548delinsC... | |
| XM_006715786.2:c.160_186delinsCATGAGAAGGTGACAGAGAGGCGCCCT | XP_006715849.1:p.His54= | |
| XM_011515561.1:c.160_186delinsCATGAGAAGGTGACAGAGAGGCGCCCT | XP_011513863.1:p.His54= | |
| XM_011515562.1:c.97_123delinsCATGAGAAGGTGACAGAGAGGCGCCCT | XP_011513864.1:p.His33= | |
| XM_011515563.1:c.93+10522_93+10548delinsCATGAGAAGGTGACAGAGAGGCGCCCT | XP_011513865.1:n.93+10522_93+10548delinsC... | |
| XM_011515564.1:c.31-25599_31-25573delinsCATGAGAAGGTGACAGAGAGGCGCCCT | XP_011513866.1:n.31-25599_31-25573delinsC... | |
| XR_428088.2:n.173_199delinsCATGAGAAGGTGACAGAGAGGCGCCCT | ||
| NM_001363458.1:c.97_123delinsCATGAGAAGGTGACAGAGAGGCGCCCT | NP_001350387.1:p.His33= | |
| NM_001363459.1:c.31-25599_31-25573delinsCATGAGAAGGTGACAGAGAGGCGCCCT | NP_001350388.1:n.31-25599_31-25573delinsC... | |
| XM_006715785.4:c.93+10522_93+10548delinsCATGAGAAGGTGACAGAGAGGCGCCCT | XP_006715848.1:n.93+10522_93+10548delinsC... | |
| XM_006715786.3:c.160_186delinsCATGAGAAGGTGACAGAGAGGCGCCCT | XP_006715849.1:p.His54= | |
| XM_011515561.2:c.160_186delinsCATGAGAAGGTGACAGAGAGGCGCCCT | XP_011513863.1:p.His54= | |
| XM_011515563.3:c.93+10522_93+10548delinsCATGAGAAGGTGACAGAGAGGCGCCCT | XP_011513865.1:n.93+10522_93+10548delinsC... | |
| XM_017012671.1:c.160_186delinsCATGAGAAGGTGACAGAGAGGCGCCCT | XP_016868160.1:p.His54= | |
| XM_017012672.2:c.93+10522_93+10548delinsCATGAGAAGGTGACAGAGAGGCGCCCT | XP_016868161.1:n.93+10522_93+10548delinsC... | |
| XM_017012673.1:c.31-25599_31-25573delinsCATGAGAAGGTGACAGAGAGGCGCCCT | XP_016868162.1:n.31-25599_31-25573delinsC... | |
| XR_428088.3:n.193_219delinsCATGAGAAGGTGACAGAGAGGCGCCCT | ||
| NM_001363458.2:c.97_123delinsCATGAGAAGGTGACAGAGAGGCGCCCT | NP_001350387.1:p.His33= | |
| NM_001363459.2:c.31-25599_31-25573delinsCATGAGAAGGTGACAGAGAGGCGCCCT | NP_001350388.1:n.31-25599_31-25573delinsC... | |
| NM_031443.4:c.97_123delinsCATGAGAAGGTGACAGAGAGGCGCCCT MANE Select | NP_113631.1:p.His33= | |
| NR_030770.2:n.179_205delinsCATGAGAAGGTGACAGAGAGGCGCCCT | ||
| NM_001167934.2:c.31-25599_31-25573delinsCATGAGAAGGTGACAGAGAGGCGCCCT | NP_001161406.1:n.31-25599_31-25573delinsC... | |
| NM_001167935.2:c.97_123delinsCATGAGAAGGTGACAGAGAGGCGCCCT | NP_001161407.1:p.His33= |