Linked Data
dbSNP Id:
rs755688229
ExAC:
1:100376289 TTGA / T
gnomAD v2:
1-100376289-TTGA-T
gnomAD v3:
1-99910733-TTGA-T
gnomAD v4:
1-99910733-TTGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99910737_99910739del , CM000663.2:g.99910737_99910739del | GRCh38 |
| NC_000001.10:g.100376293_100376295del , CM000663.1:g.100376293_100376295del | GRCh37 |
| NC_000001.9:g.100148881_100148883del | NCBI36 |
| NG_012865.1:g.65654_65656del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361915.8:c.3726_3728del MANE Select | ENSP00000355106.3:p.Asp1242del | |
| ENST00000637337.1:n.3937_3939del | ||
| ENST00000294724.8:c.3726_3728del | ENSP00000294724.4:p.Asp1242del | |
| ENST00000361302.7:c.3678_3680del | ENSP00000354971.3:p.Asp1226del | |
| ENST00000361522.4:c.3675_3677del | ENSP00000354635.4:p.Asp1225del | |
| ENST00000361915.7:c.3726_3728del | ENSP00000355106.3:p.Asp1242del | |
| ENST00000370161.6:c.3678_3680del | ENSP00000359180.2:p.Asp1226del | |
| ENST00000370163.7:c.3726_3728del | ENSP00000359182.3:p.Asp1242del | |
| ENST00000370165.7:c.3726_3728del | ENSP00000359184.3:p.Asp1242del | |
| NM_000028.2:c.3726_3728del | NP_000019.2:p.Asp1242del | |
| NM_000642.2:c.3726_3728del | NP_000633.2:p.Asp1242del | |
| NM_000643.2:c.3726_3728del | NP_000634.2:p.Asp1242del | |
| NM_000644.2:c.3726_3728del | NP_000635.2:p.Asp1242del | |
| NM_000645.2:c.3675_3677del | NP_000636.2:p.Asp1225del | |
| NM_000646.2:c.3678_3680del | NP_000637.2:p.Asp1226del | |
| XM_005270557.1:c.3726_3728del | XP_005270614.1:p.Asp1242del | |
| XM_005270557.2:c.3726_3728del | XP_005270614.1:p.Asp1242del | |
| XM_017000501.2:c.1986_1988del | XP_016855990.1:p.Asp662del | |
| NM_000642.3:c.3726_3728del MANE Select | NP_000633.2:p.Asp1242del |