Linked Data
dbSNP Id:
rs1379738315
gnomAD v2:
5-36976261-C-CATG
gnomAD v3:
5-36976159-C-CATG
gnomAD v4:
5-36976159-C-CATG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36976160_36976161insTGA , CM000667.2:g.36976160_36976161insTGA | GRCh38 |
| NC_000005.9:g.36976262_36976263insTGA , CM000667.1:g.36976262_36976263insTGA | GRCh37 |
| NC_000005.8:g.37012019_37012020insTGA | NCBI36 |
| NG_006987.1:g.104278_104279insTGA | |
| NG_006987.2:g.104278_104279insTGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.1253_1254insTGA MANE Select | ENSP00000282516.8:p.Gln418delinsHisGlu | |
| ENST00000652901.1:c.1253_1254insTGA | ENSP00000499536.1:p.Gln418delinsHisGlu | |
| ENST00000282516.12:c.1253_1254insTGA | ENSP00000282516.8:p.Gln418delinsHisGlu | |
| ENST00000448238.2:c.1253_1254insTGA | ENSP00000406266.2:p.Gln418delinsHisGlu | |
| ENST00000504430.5:n.873_874insTGA | ||
| ENST00000621733.1:c.1-88418_1-88417insTGA | ENSP00000480694.1:n.1-88418_1-88417insTGA | |
| NM_015384.4:c.1253_1254insTGA | NP_056199.2:p.Gln418delinsHisGlu | |
| NM_133433.3:c.1253_1254insTGA | NP_597677.2:p.Gln418delinsHisGlu | |
| XM_005248280.2:c.1253_1254insTGA | XP_005248337.1:p.Gln418delinsHisGlu | |
| XM_005248282.3:c.509_510insTGA | XP_005248339.2:p.Gln170delinsHisGlu | |
| XM_006714467.2:c.1253_1254insTGA | XP_006714530.1:p.Gln418delinsHisGlu | |
| XM_006714468.1:c.1253_1254insTGA | XP_006714531.1:p.Gln418delinsHisGlu | |
| XM_011514014.1:c.1253_1254insTGA | XP_011512316.1:p.Gln418delinsHisGlu | |
| XM_011514015.1:c.1253_1254insTGA | XP_011512317.1:p.Gln418delinsHisGlu | |
| XM_005248280.3:c.1253_1254insTGA | XP_005248337.1:p.Gln418delinsHisGlu | |
| XM_005248282.5:c.593_594insTGA | XP_005248339.3:p.Gln198delinsHisGlu | |
| XM_006714468.2:c.1253_1254insTGA | XP_006714531.1:p.Gln418delinsHisGlu | |
| XM_017009329.1:c.1253_1254insTGA | XP_016864818.1:p.Gln418delinsHisGlu | |
| XM_017009331.1:c.1253_1254insTGA | XP_016864820.1:p.Gln418delinsHisGlu | |
| NM_133433.4:c.1253_1254insTGA MANE Select | NP_597677.2:p.Gln418delinsHisGlu | |
| NM_015384.5:c.1253_1254insTGA | NP_056199.2:p.Gln418delinsHisGlu |