Linked Data
dbSNP Id:
rs1280608629
gnomAD v3:
16-3770741-AGGAGTCGGGGTG-A
gnomAD v4:
16-3770741-AGGAGTCGGGGTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3770748_3770759del , CM000678.2:g.3770748_3770759del | GRCh38 |
| NC_000016.9:g.3820749_3820760del , CM000678.1:g.3820749_3820760del | GRCh37 |
| NC_000016.8:g.3760750_3760761del | NCBI36 |
| NG_009873.1:g.114368_114379del | |
| NG_009873.2:g.114961_114972del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.2697_2708del MANE Select | ENSP00000262367.5:p.Thr900_Pro903del | |
| ENST00000262367.9:c.2697_2708del | ENSP00000262367.5:p.Thr900_Pro903del | |
| ENST00000382070.7:c.2583_2594del | ENSP00000371502.3:p.Thr862_Pro865del | |
| ENST00000570939.2:c.1302_1313del | ENSP00000461002.2:p.Thr435_Pro438del | |
| NM_001079846.1:c.2583_2594del | NP_001073315.1:p.Thr862_Pro865del | |
| NM_004380.2:c.2697_2708del | NP_004371.2:p.Thr900_Pro903del | |
| XM_005255124.3:c.2652_2663del | XP_005255181.1:p.Thr885_Pro888del | |
| XM_005255125.3:c.2464-1400_2464-1389del | XP_005255182.1:n.2464-1400_2464-1389del | |
| XM_006720848.2:c.2697_2708del | XP_006720911.1:p.Thr900_Pro903del | |
| XM_011522380.1:c.2643_2654del | XP_011520682.1:p.Thr882_Pro885del | |
| XM_011522381.1:c.1944_1955del | XP_011520683.1:p.Thr649_Pro652del | |
| XM_011522382.1:c.2697_2708del | XP_011520684.1:p.Thr900_Pro903del | |
| XM_005255124.4:c.2652_2663del | XP_005255181.1:p.Thr885_Pro888del | |
| XM_005255125.4:c.2464-1400_2464-1389del | XP_005255182.1:n.2464-1400_2464-1389del | |
| XM_006720848.3:c.2697_2708del | XP_006720911.1:p.Thr900_Pro903del | |
| XM_011522381.2:c.1944_1955del | XP_011520683.1:p.Thr649_Pro652del | |
| XM_011522382.3:c.2697_2708del | XP_011520684.1:p.Thr900_Pro903del | |
| XM_017022944.1:c.2691_2702del | XP_016878433.1:p.Thr898_Pro901del | |
| NM_004380.3:c.2697_2708del MANE Select | NP_004371.2:p.Thr900_Pro903del |