Linked Data
dbSNP Id:
rs1381600341
gnomAD v2:
17-1631717-AAGAGGAGGAGGAGGACAGCTGCGTGGTGCT-A
gnomAD v3:
17-1728423-AAGAGGAGGAGGAGGACAGCTGCGTGGTGCT-A
gnomAD v4:
17-1728423-AAGAGGAGGAGGAGGACAGCTGCGTGGTGCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1728438_1728467del , CM000679.2:g.1728438_1728467del | GRCh38 |
| NC_000017.10:g.1631732_1631761del , CM000679.1:g.1631732_1631761del | GRCh37 |
| NC_000017.9:g.1578482_1578511del | NCBI36 |
| NG_032811.1:g.16916_16945del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409644.6:c.3479_3508del MANE Select | ENSP00000386609.1:p.Asp1160_Glu1169del | |
| ENST00000309182.9:c.326_355del | ENSP00000312074.5:p.Asp109_Glu118del | |
| ENST00000409644.5:c.3479_3508del | ENSP00000386609.1:p.Asp1160_Glu1169del | |
| ENST00000418841.5:c.-89+3652_-89+3681del | ENSP00000395198.1:n.-89+3652_-89+3681del | |
| ENST00000419248.5:c.-14-1942_-14-1913del | ENSP00000407845.1:n.-14-1942_-14-1913del | |
| ENST00000437219.6:c.59-1942_59-1913del | ENSP00000391074.2:n.59-1942_59-1913del | |
| ENST00000446363.5:c.-308-2317_-308-2288del | ENSP00000401560.1:n.-308-2317_-308-2288del | |
| ENST00000455636.5:c.59-1942_59-1913del | ENSP00000395226.1:n.59-1942_59-1913del | |
| ENST00000464528.5:n.865_894del | ||
| ENST00000468539.5:c.63-3887_63-3858del | ENSP00000460742.1:n.63-3887_63-3858del | |
| ENST00000492901.1:n.88-1942_88-1913del | ||
| ENST00000575206.1:c.229_258del | ||
| NM_001163673.1:c.59-1942_59-1913del | NP_001157145.1:n.59-1942_59-1913del | |
| NM_001163809.1:c.3479_3508del | NP_001157281.1:p.Asp1160_Glu1169del | |
| NM_001163811.1:c.-14-1942_-14-1913del | NP_001157283.1:n.-14-1942_-14-1913del | |
| NM_152348.3:c.326_355del | NP_689561.2:p.Asp109_Glu118del | |
| XM_005256454.2:c.3479_3508del | XP_005256511.1:p.Asp1160_Glu1169del | |
| XM_011523650.1:c.3479_3508del | XP_011521952.1:p.Asp1160_Glu1169del | |
| XM_011523651.1:c.326_355del | XP_011521953.1:p.Asp109_Glu118del | |
| XR_933973.1:n.3623_3652del | ||
| XM_011523651.2:c.326_355del | XP_011521953.1:p.Asp109_Glu118del | |
| XM_017024184.1:c.3479_3508del | XP_016879673.1:p.Asp1160_Glu1169del | |
| XR_001752427.1:n.3631_3660del | ||
| XR_933973.2:n.3631_3660del | ||
| NM_001163809.2:c.3479_3508del MANE Select | NP_001157281.1:p.Asp1160_Glu1169del | |
| NM_001163811.2:c.-14-1942_-14-1913del | NP_001157283.1:n.-14-1942_-14-1913del | |
| NM_152348.4:c.326_355del | NP_689561.2:p.Asp109_Glu118del | |
| NM_001163673.2:c.59-1942_59-1913del | NP_001157145.1:n.59-1942_59-1913del |