Linked Data
dbSNP Id:
rs1394691938
gnomAD v2:
1-100387156-AAC-A
gnomAD v3:
1-99921600-AAC-A
gnomAD v4:
1-99921600-AAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99921604_99921605del , CM000663.2:g.99921604_99921605del | GRCh38 |
| NC_000001.10:g.100387160_100387161del , CM000663.1:g.100387160_100387161del | GRCh37 |
| NC_000001.9:g.100159748_100159749del | NCBI36 |
| NG_012865.1:g.76521_76522del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361915.8:c.4552_4553del MANE Select | ENSP00000355106.3:p.Gln1518SerfsTer9 | |
| ENST00000637337.1:n.4763_4764del | ||
| ENST00000294724.8:c.4552_4553del | ENSP00000294724.4:p.Gln1518SerfsTer9 | |
| ENST00000361302.7:c.4504_4505del | ENSP00000354971.3:p.Gln1502SerfsTer9 | |
| ENST00000361522.4:c.4501_4502del | ENSP00000354635.4:p.Gln1501SerfsTer9 | |
| ENST00000361915.7:c.4552_4553del | ENSP00000355106.3:p.Gln1518SerfsTer9 | |
| ENST00000370161.6:c.4504_4505del | ENSP00000359180.2:p.Gln1502SerfsTer9 | |
| ENST00000370163.7:c.4552_4553del | ENSP00000359182.3:p.Gln1518SerfsTer9 | |
| ENST00000370165.7:c.4552_4553del | ENSP00000359184.3:p.Gln1518SerfsTer9 | |
| NM_000028.2:c.4552_4553del | NP_000019.2:p.Gln1518SerfsTer9 | |
| NM_000642.2:c.4552_4553del | NP_000633.2:p.Gln1518SerfsTer9 | |
| NM_000643.2:c.4552_4553del | NP_000634.2:p.Gln1518SerfsTer9 | |
| NM_000644.2:c.4552_4553del | NP_000635.2:p.Gln1518SerfsTer9 | |
| NM_000645.2:c.4501_4502del | NP_000636.2:p.Gln1501SerfsTer9 | |
| NM_000646.2:c.4504_4505del | NP_000637.2:p.Gln1502SerfsTer9 | |
| XM_005270557.1:c.4552_4553del | XP_005270614.1:p.Gln1518SerfsTer9 | |
| XR_947626.1:n.1317+2636_1317+2637del | ||
| XR_947627.1:n.1206+2636_1206+2637del | ||
| XR_947628.1:n.1311+2636_1311+2637del | ||
| XR_947630.1:n.1249+2636_1249+2637del | ||
| XR_947632.1:n.1135+2636_1135+2637del | ||
| XR_947633.1:n.1246+2636_1246+2637del | ||
| XR_947634.1:n.660+2636_660+2637del | ||
| XR_947635.1:n.728+2636_728+2637del | ||
| XM_005270557.2:c.4552_4553del | XP_005270614.1:p.Gln1518SerfsTer9 | |
| XM_017000501.2:c.2812_2813del | XP_016855990.1:p.Gln938SerfsTer9 | |
| NM_000642.3:c.4552_4553del MANE Select | NP_000633.2:p.Gln1518SerfsTer9 |