Linked Data
dbSNP Id:
rs781201937
ExAC:
7:138424299 A / AGT
gnomAD v2:
7-138424299-A-AGT
MyVariant Identifiers:
chr7:g.138424299_138424300insGT (hg19)
chr7:g.138739554_138739555insGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138739554_138739555insGT , CM000669.2:g.138739554_138739555insGT | GRCh38 |
| NC_000007.13:g.138424299_138424300insGT , CM000669.1:g.138424299_138424300insGT | GRCh37 |
| NC_000007.12:g.138074839_138074840insGT | NCBI36 |
| NG_008145.1:g.63642_63643insAC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310018.7:c.1557_1558insAC MANE Select | ENSP00000308122.2:p.Phe520ThrfsTer18 | |
| ENST00000478480.2:c.783_784insAC | ENSP00000495261.1:p.Phe262ThrfsTer18 | |
| ENST00000644341.1:c.783_784insAC | ENSP00000495642.1:p.Phe262ThrfsTer18 | |
| ENST00000645515.1:c.1557_1558insAC | ENSP00000496421.1:p.Phe520ThrfsTer18 | |
| ENST00000647427.1:c.450_451insAC | ENSP00000496259.1:p.Phe151ThrfsTer18 | |
| ENST00000310018.6:c.1557_1558insAC | ENSP00000308122.2:p.Phe520ThrfsTer18 | |
| ENST00000353492.4:c.1557_1558insAC | ENSP00000253856.6:p.Phe520ThrfsTer18 | |
| ENST00000393054.5:c.1557_1558insAC | ENSP00000376774.1:p.Phe520ThrfsTer18 | |
| ENST00000471085.1:n.252-5301_252-5300insAC | ||
| NM_020632.2:c.1557_1558insAC | NP_065683.2:p.Phe520ThrfsTer18 | |
| NM_130840.2:c.1557_1558insAC | NP_570855.2:p.Phe520ThrfsTer18 | |
| NM_130841.2:c.1557_1558insAC | NP_570856.2:p.Phe520ThrfsTer18 | |
| XM_005250393.1:c.1557_1558insAC | XP_005250450.1:p.Phe520ThrfsTer18 | |
| XM_005250394.2:c.1557_1558insAC | XP_005250451.1:p.Phe520ThrfsTer18 | |
| XM_005250394.3:c.1557_1558insAC | XP_005250451.1:p.Phe520ThrfsTer18 | |
| NM_020632.3:c.1557_1558insAC MANE Select | NP_065683.2:p.Phe520ThrfsTer18 | |
| NM_130840.3:c.1557_1558insAC | NP_570855.2:p.Phe520ThrfsTer18 | |
| NM_130841.3:c.1557_1558insAC | NP_570856.2:p.Phe520ThrfsTer18 |