Linked Data
dbSNP Id:
rs2143830972
gnomAD v3:
17-80105281-GCCCCTCGGGGAGCAGTGGGGACACCAC-G
gnomAD v4:
17-80105281-GCCCCTCGGGGAGCAGTGGGGACACCAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80105282_80105308del , CM000679.2:g.80105282_80105308del | GRCh38 |
| NC_000017.10:g.78079081_78079107del , CM000679.1:g.78079081_78079107del | GRCh37 |
| NC_000017.9:g.75693676_75693702del | NCBI36 |
| NG_009822.1:g.8727_8753del , LRG_673:g.8727_8753del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.546+150_546+176del | ENSP00000460543.2:n.546+150_546+176del | |
| ENST00000572080.2:c.546+150_546+176del | ENSP00000459972.2:n.546+150_546+176del | |
| ENST00000577106.6:c.546+150_546+176del | ENSP00000458306.2:n.546+150_546+176del | |
| ENST00000302262.8:c.546+150_546+176del MANE Select | ENSP00000305692.3:n.546+150_546+176del | |
| ENST00000302262.7:c.546+150_546+176del | ENSP00000305692.3:n.546+150_546+176del | |
| ENST00000390015.7:c.546+150_546+176del | ENSP00000374665.3:n.546+150_546+176del | |
| ENST00000570803.5:c.546+150_546+176del | ENSP00000460543.1:n.546+150_546+176del | |
| ENST00000577106.5:c.546+150_546+176del | ENSP00000458306.1:n.546+150_546+176del | |
| NM_000152.3:c.546+150_546+176del , LRG_673t1:c.546+150_546+176del | NP_000143.2:n.546+150_546+176del | |
| NM_001079803.1:c.546+150_546+176del | NP_001073271.1:n.546+150_546+176del | |
| NM_001079804.1:c.546+150_546+176del | NP_001073272.1:n.546+150_546+176del | |
| XM_005257193.1:c.546+150_546+176del | XP_005257250.1:n.546+150_546+176del | |
| XM_005257194.3:c.546+150_546+176del | XP_005257251.1:n.546+150_546+176del | |
| NM_000152.4:c.546+150_546+176del | NP_000143.2:n.546+150_546+176del | |
| NM_001079803.2:c.546+150_546+176del | NP_001073271.1:n.546+150_546+176del | |
| NM_001079804.2:c.546+150_546+176del | NP_001073272.1:n.546+150_546+176del | |
| XM_005257193.2:c.546+150_546+176del | XP_005257250.1:n.546+150_546+176del | |
| XM_005257194.4:c.546+150_546+176del | XP_005257251.1:n.546+150_546+176del | |
| NM_000152.5:c.546+150_546+176del MANE Select | NP_000143.2:n.546+150_546+176del | |
| NM_001079803.3:c.546+150_546+176del | NP_001073271.1:n.546+150_546+176del | |
| NM_001079804.3:c.546+150_546+176del | NP_001073272.1:n.546+150_546+176del |