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
dbSNP Id:
rs143941948
MyVariant Identifiers:
chr17:g.56774115_56774116insGTTT (hg19)
chr17:g.58696754_58696755insGTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58696754_58696755insGTTT , CM000679.2:g.58696754_58696755insGTTT | GRCh38 |
| NC_000017.10:g.56774115_56774116insGTTT , CM000679.1:g.56774115_56774116insGTTT | GRCh37 |
| NC_000017.9:g.54129114_54129115insGTTT | NCBI36 |
| NG_023199.1:g.9153_9154insGTTT , LRG_314:g.9153_9154insGTTT | |
| NG_047169.1:g.325_326insAAAC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461271.6:c.115_116insGTTT | ENSP00000464056.2:p.Val39GlyfsTer5 | |
| ENST00000697675.1:n.3063_3064insGTTT | ||
| ENST00000697676.1:n.526_527insGTTT | ||
| ENST00000697677.1:n.1547_1548insGTTT | ||
| ENST00000697678.1:n.368_369insGTTT | ||
| ENST00000697679.1:n.1540_1541insGTTT | ||
| ENST00000697680.1:c.*1330_*1331insGTTT | ENSP00000513392.1:n.*1330_*1331insGTTT | |
| ENST00000697681.1:c.*1357_*1358insGTTT | ENSP00000513393.1:n.*1357_*1358insGTTT | |
| ENST00000697683.1:c.*1330_*1331insGTTT | ENSP00000513395.1:n.*1330_*1331insGTTT | |
| ENST00000697684.1:n.526_527insGTTT | ||
| ENST00000697685.1:c.*1268+1565_*1268+1566insGTTT | ENSP00000513396.1:n.*1268+1565_*1268+1566... | |
| ENST00000697686.1:c.115_116insGTTT | ENSP00000513397.1:p.Val39GlyfsTer5 | |
| ENST00000697687.1:n.450+1565_450+1566insGTTT | ||
| ENST00000697688.1:n.512_513insGTTT | ||
| ENST00000697689.1:c.*1107+1565_*1107+1566insGTTT | ENSP00000513398.1:n.*1107+1565_*1107+1566... | |
| ENST00000697690.1:c.466_467insGTTT | ENSP00000513399.1:p.Val156GlyfsTer5 | |
| ENST00000697691.1:c.*438_*439insGTTT | ENSP00000513400.1:n.*438_*439insGTTT | |
| ENST00000697692.1:c.*478_*479insGTTT | ENSP00000513401.1:n.*478_*479insGTTT | |
| ENST00000697694.1:c.115_116insGTTT | ENSP00000513402.1:p.Val39GlyfsTer5 | |
| ENST00000697695.1:n.1073_1074insGTTT | ||
| ENST00000337432.9:c.466_467insGTTT MANE Select | ENSP00000336701.4:p.Val156GlyfsTer5 | |
| ENST00000337432.8:c.466_467insGTTT | ENSP00000336701.4:p.Val156GlyfsTer5 | |
| ENST00000413590.5:c.104_105insGTTT | ||
| ENST00000425173.5:c.262_263insGTTT | ENSP00000407282.1:p.Val88GlyfsTer5 | |
| ENST00000461271.5:c.115_116insGTTT | ENSP00000464056.1:p.Val39GlyfsTer5 | |
| ENST00000475762.5:c.*1169_*1170insGTTT | ENSP00000432421.1:n.*1169_*1170insGTTT | |
| ENST00000482007.5:c.404+1565_404+1566insGTTT | ENSP00000433332.1:n.404+1565_404+1566insG... | |
| ENST00000487525.5:c.404+1565_404+1566insGTTT | ENSP00000431637.1:n.404+1565_404+1566insG... | |
| ENST00000487921.5:n.378_379insGTTT | ||
| ENST00000583539.5:c.466_467insGTTT | ENSP00000463121.1:p.Val156GlyfsTer5 | |
| ENST00000584617.5:c.188_189insGTTT | ||
| ENST00000622327.4:c.202_203insGTTT | ENSP00000482326.1:p.Val68GlyfsTer5 | |
| NM_058216.2:c.466_467insGTTT | NP_478123.1:p.Val156GlyfsTer5 | |
| NR_103872.1:n.475+1565_475+1566insGTTT | ||
| XM_006722001.2:c.466_467insGTTT | XP_006722064.1:p.Val156GlyfsTer5 | |
| XM_006722002.2:c.466_467insGTTT | XP_006722065.1:p.Val156GlyfsTer5 | |
| XM_006722004.2:c.115_116insGTTT | XP_006722067.1:p.Val39GlyfsTer5 | |
| XM_006722005.2:c.115_116insGTTT | XP_006722068.1:p.Val39GlyfsTer5 | |
| XM_011525092.1:c.115_116insGTTT | XP_011523394.1:p.Val39GlyfsTer5 | |
| XM_011525093.1:c.115_116insGTTT | XP_011523395.1:p.Val39GlyfsTer5 | |
| XM_011525094.1:c.115_116insGTTT | XP_011523396.1:p.Val39GlyfsTer5 | |
| XR_934513.1:n.539_540insGTTT | ||
| XR_934514.1:n.539_540insGTTT | ||
| XM_006722001.4:c.466_467insGTTT | XP_006722064.1:p.Val156GlyfsTer5 | |
| XM_006722002.4:c.466_467insGTTT | XP_006722065.1:p.Val156GlyfsTer5 | |
| XM_006722004.3:c.115_116insGTTT | XP_006722067.1:p.Val39GlyfsTer5 | |
| XM_006722005.3:c.115_116insGTTT | XP_006722068.1:p.Val39GlyfsTer5 | |
| XM_011525092.2:c.115_116insGTTT | XP_011523394.1:p.Val39GlyfsTer5 | |
| XM_011525093.2:c.115_116insGTTT | XP_011523395.1:p.Val39GlyfsTer5 | |
| XM_011525094.2:c.115_116insGTTT | XP_011523396.1:p.Val39GlyfsTer5 | |
| XM_017024914.1:c.115_116insGTTT | XP_016880403.1:p.Val39GlyfsTer5 | |
| XM_017024915.1:c.115_116insGTTT | XP_016880404.1:p.Val39GlyfsTer5 | |
| XM_017024916.1:c.115_116insGTTT | XP_016880405.1:p.Val39GlyfsTer5 | |
| XM_017024917.1:c.115_116insGTTT | XP_016880406.1:p.Val39GlyfsTer5 | |
| XM_017024918.2:c.115_116insGTTT | XP_016880407.1:p.Val39GlyfsTer5 | |
| XM_017024919.1:c.115_116insGTTT | XP_016880408.1:p.Val39GlyfsTer5 | |
| XR_934513.3:n.970_971insGTTT | ||
| XR_934514.3:n.970_971insGTTT | ||
| NM_058216.3:c.466_467insGTTT MANE Select | NP_478123.1:p.Val156GlyfsTer5 | |
| NR_103872.2:n.446+1565_446+1566insGTTT |