Linked Data
ClinVar Variation Id:
1170582
dbSNP Id:
rs750547789
ExAC:
17:41243349 TAACTA / T
gnomAD v2:
17-41243349-TAACTA-T
gnomAD v3:
17-43091332-TAACTA-T
gnomAD v4:
17-43091332-TAACTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091333_43091337del , CM000679.2:g.43091333_43091337del | GRCh38 |
| NC_000017.10:g.41243350_41243354del , CM000679.1:g.41243350_41243354del | GRCh37 |
| NC_000017.9:g.38496876_38496880del | NCBI36 |
| NG_005905.2:g.126647_126651del , LRG_292:g.126647_126651del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.4258_4262del | ||
| ENST00000461574.2:c.4096+98_4096+102del | ENSP00000417241.2:n.4096+98_4096+102del | |
| ENST00000470026.6:c.4096+98_4096+102del | ENSP00000419274.2:n.4096+98_4096+102del | |
| ENST00000473961.6:c.3970+98_3970+102del | ENSP00000420201.2:n.3970+98_3970+102del | |
| ENST00000476777.6:c.4093+98_4093+102del | ENSP00000417554.2:n.4093+98_4093+102del | |
| ENST00000477152.6:c.4018+98_4018+102del | ENSP00000419988.2:n.4018+98_4018+102del | |
| ENST00000478531.6:c.785-305_785-301del | ENSP00000420412.2:n.785-305_785-301del | |
| ENST00000489037.2:c.4018+98_4018+102del | ENSP00000420781.2:n.4018+98_4018+102del | |
| ENST00000493919.6:c.647-305_647-301del | ENSP00000418819.2:n.647-305_647-301del | |
| ENST00000494123.6:c.4096+98_4096+102del | ENSP00000419103.2:n.4096+98_4096+102del | |
| ENST00000497488.2:c.3208+98_3208+102del | ENSP00000418986.2:n.3208+98_3208+102del | |
| ENST00000618469.2:c.4096+98_4096+102del | ENSP00000478114.2:n.4096+98_4096+102del | |
| ENST00000634433.2:c.3973+98_3973+102del | ENSP00000489431.2:n.3973+98_3973+102del | |
| ENST00000644379.2:c.4096+98_4096+102del | ENSP00000496570.2:n.4096+98_4096+102del | |
| ENST00000644555.2:c.647-305_647-301del | ENSP00000494614.2:n.647-305_647-301del | |
| ENST00000652672.2:c.3955+98_3955+102del | ENSP00000498906.2:n.3955+98_3955+102del | |
| ENST00000484087.6:c.665-305_665-301del | ENSP00000419481.2:n.665-305_665-301del | |
| ENST00000700182.1:c.707-305_707-301del | ENSP00000514849.1:n.707-305_707-301del | |
| ENST00000357654.9:c.4096+98_4096+102del MANE Select | ENSP00000350283.3:n.4096+98_4096+102del | |
| ENST00000471181.7:c.4096+98_4096+102del | ENSP00000418960.2:n.4096+98_4096+102del | |
| ENST00000644379.1:c.417+98_417+102del | ||
| ENST00000352993.7:c.671-305_671-301del | ENSP00000312236.5:n.671-305_671-301del | |
| ENST00000354071.7:c.4194_4198del | ENSP00000326002.7:p.Tyr1398Ter | |
| ENST00000357654.7:c.4096+98_4096+102del | ENSP00000350283.3:n.4096+98_4096+102del | |
| ENST00000461221.5:c.*3879+98_*3879+102del | ENSP00000418548.1:n.*3879+98_*3879+102del | |
| ENST00000461574.1:c.390+98_390+102del | ||
| ENST00000468300.5:c.788-305_788-301del | ENSP00000417148.1:n.788-305_788-301del | |
| ENST00000471181.6:c.4096+98_4096+102del | ENSP00000418960.2:n.4096+98_4096+102del | |
| ENST00000478531.5:c.785-305_785-301del | ENSP00000420412.1:n.785-305_785-301del | |
| ENST00000484087.5:c.410-305_410-301del | ENSP00000419481.1:n.410-305_410-301del | |
| ENST00000487825.5:c.413-305_413-301del | ENSP00000418212.1:n.413-305_413-301del | |
| ENST00000491747.6:c.788-305_788-301del | ENSP00000420705.2:n.788-305_788-301del | |
| ENST00000493795.5:c.3955+98_3955+102del | ENSP00000418775.1:n.3955+98_3955+102del | |
| ENST00000493919.5:c.647-305_647-301del | ENSP00000418819.1:n.647-305_647-301del | |
| ENST00000586385.5:c.5-27386_5-27382del | ENSP00000465818.1:n.5-27386_5-27382del | |
| ENST00000591534.5:c.-43-16816_-43-16812del | ENSP00000467329.1:n.-43-16816_-43-16812del | |
| ENST00000591849.5:c.-99+33934_-99+33938del | ENSP00000465347.1:n.-99+33934_-99+33938del | |
| NM_007294.3:c.4096+98_4096+102del , LRG_292t1:c.4096+98_4096+102del | NP_009225.1:n.4096+98_4096+102del | |
| NM_007297.3:c.3955+98_3955+102del | NP_009228.2:n.3955+98_3955+102del | |
| NM_007298.3:c.788-305_788-301del | NP_009229.2:n.788-305_788-301del | |
| NM_007299.3:c.788-305_788-301del | NP_009230.2:n.788-305_788-301del | |
| NM_007300.3:c.4096+98_4096+102del | NP_009231.2:n.4096+98_4096+102del | |
| NR_027676.1:n.4232+98_4232+102del | ||
| NM_007294.4:c.4096+98_4096+102del MANE Select | NP_009225.1:n.4096+98_4096+102del | |
| NM_007297.4:c.3955+98_3955+102del | NP_009228.2:n.3955+98_3955+102del | |
| NM_007299.4:c.788-305_788-301del | NP_009230.2:n.788-305_788-301del | |
| NM_007300.4:c.4096+98_4096+102del | NP_009231.2:n.4096+98_4096+102del | |
| NR_027676.2:n.4273+98_4273+102del |