Linked Data
dbSNP Id:
rs757126444
gnomAD v2:
1-46715643-ACTTCACCTTT-A
gnomAD v3:
1-46249971-ACTTCACCTTT-A
gnomAD v4:
1-46249971-ACTTCACCTTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46249973_46249982del , CM000663.2:g.46249973_46249982del | GRCh38 |
| NC_000001.10:g.46715645_46715654del , CM000663.1:g.46715645_46715654del | GRCh37 |
| NC_000001.9:g.46488232_46488241del | NCBI36 |
| NG_012144.1:g.7279_7288del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371975.9:c.91-27_91-18del MANE Select | ENSP00000361043.4:n.91-27_91-18del | |
| ENST00000469835.6:c.91-27_91-18del | ENSP00000477172.2:n.91-27_91-18del | |
| ENST00000655446.1:c.91-27_91-18del | ENSP00000499451.1:n.91-27_91-18del | |
| ENST00000657122.1:c.116-27_116-18del | ENSP00000499519.1:n.116-27_116-18del | |
| ENST00000668390.1:n.487-27_487-18del | ||
| ENST00000669994.1:c.91-27_91-18del | ENSP00000499311.1:n.91-27_91-18del | |
| ENST00000671528.1:c.91-27_91-18del | ENSP00000499652.1:n.91-27_91-18del | |
| ENST00000371975.8:c.91-27_91-18del | ENSP00000361043.4:n.91-27_91-18del | |
| ENST00000442598.5:c.91-27_91-18del | ENSP00000396113.1:n.91-27_91-18del | |
| ENST00000463715.5:c.-482-27_-482-18del | ENSP00000480207.1:n.-482-27_-482-18del | |
| ENST00000469835.5:c.91-27_91-18del | ENSP00000477172.1:n.91-27_91-18del | |
| ENST00000487700.1:n.88-27_88-18del | ||
| ENST00000493032.5:c.-314-27_-314-18del | ENSP00000479995.1:n.-314-27_-314-18del | |
| ENST00000493985.5:c.-450-27_-450-18del | ENSP00000479823.1:n.-450-27_-450-18del | |
| NM_001142548.1:c.91-27_91-18del | NP_001136020.1:n.91-27_91-18del | |
| NM_003579.3:c.91-27_91-18del | NP_003570.2:n.91-27_91-18del | |
| XM_006710975.2:c.-450-27_-450-18del | XP_006711038.1:n.-450-27_-450-18del | |
| XM_006710975.3:c.-450-27_-450-18del | XP_006711038.1:n.-450-27_-450-18del | |
| NM_003579.4:c.91-27_91-18del MANE Select | NP_003570.2:n.91-27_91-18del | |
| NM_001370766.1:c.-450-27_-450-18del | NP_001357695.1:n.-450-27_-450-18del | |
| NM_001142548.2:c.91-27_91-18del | NP_001136020.1:n.91-27_91-18del |