Linked Data
dbSNP Id:
rs1403322361
gnomAD v2:
2-128183642-CCA-C
gnomAD v3:
2-127426066-CCA-C
gnomAD v4:
2-127426066-CCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127426068_127426069del , CM000664.2:g.127426068_127426069del | GRCh38 |
| NC_000002.11:g.128183644_128183645del , CM000664.1:g.128183644_128183645del | GRCh37 |
| NC_000002.10:g.127900114_127900115del | NCBI36 |
| NG_016323.1:g.12649_12650del , LRG_599:g.12649_12650del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.536-17_536-16del MANE Select | ENSP00000234071.4:n.536-17_536-16del | |
| ENST00000234071.7:c.536-17_536-16del | ENSP00000234071.3:n.536-17_536-16del | |
| ENST00000402125.2:c.121-2289_121-2288del | ||
| ENST00000409048.1:c.638-17_638-16del | ENSP00000386679.1:n.638-17_638-16del | |
| ENST00000442644.5:c.479-17_479-16del | ENSP00000411241.1:n.479-17_479-16del | |
| ENST00000464089.1:n.122-17_122-16del | ||
| NM_000312.3:c.536-17_536-16del , LRG_599t1:c.536-17_536-16del | NP_000303.1:n.536-17_536-16del | |
| XM_005263715.3:c.719-17_719-16del | XP_005263772.1:n.719-17_719-16del | |
| XM_005263716.3:c.701-17_701-16del | XP_005263773.1:n.701-17_701-16del | |
| XM_005263717.3:c.599-17_599-16del | XP_005263774.1:n.599-17_599-16del | |
| XM_005263717.4:c.599-17_599-16del | XP_005263774.1:n.599-17_599-16del | |
| XM_017004505.1:c.779-17_779-16del | XP_016859994.1:n.779-17_779-16del | |
| XM_024453002.1:c.881-17_881-16del | XP_024308770.1:n.881-17_881-16del | |
| XM_024453003.1:c.821-17_821-16del | XP_024308771.1:n.821-17_821-16del | |
| XM_024453004.1:c.719-17_719-16del | XP_024308772.1:n.719-17_719-16del | |
| XM_024453005.1:c.701-17_701-16del | XP_024308773.1:n.701-17_701-16del | |
| XM_024453006.1:c.638-17_638-16del | XP_024308774.1:n.638-17_638-16del | |
| XR_923313.2:n.4517_4518del | ||
| NM_000312.4:c.536-17_536-16del MANE Select | NP_000303.1:n.536-17_536-16del | |
| NM_001375602.1:c.719-17_719-16del | NP_001362531.1:n.719-17_719-16del | |
| NM_001375603.1:c.701-17_701-16del | NP_001362532.1:n.701-17_701-16del | |
| NM_001375604.1:c.599-17_599-16del | NP_001362533.1:n.599-17_599-16del | |
| NM_001375605.1:c.638-17_638-16del | NP_001362534.1:n.638-17_638-16del | |
| NM_001375606.1:c.704-17_704-16del | NP_001362535.1:n.704-17_704-16del | |
| NM_001375607.1:c.722-17_722-16del | NP_001362536.1:n.722-17_722-16del | |
| NM_001375608.1:c.479-17_479-16del | NP_001362537.1:n.479-17_479-16del | |
| NM_001375609.1:c.512-17_512-16del | NP_001362538.1:n.512-17_512-16del | |
| NM_001375610.1:c.530-17_530-16del | NP_001362539.1:n.530-17_530-16del | |
| NM_001375611.1:c.536-17_536-16del | NP_001362540.1:n.536-17_536-16del | |
| NM_001375613.1:c.536-17_536-16del | NP_001362542.1:n.536-17_536-16del |