Linked Data
dbSNP Id:
rs768220817
ExAC:
19:41518712 TCTC / T
gnomAD v2:
19-41518712-TCTC-T
gnomAD v4:
19-41012807-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41012810_41012812del , CM000681.2:g.41012810_41012812del | GRCh38 |
| NC_000019.9:g.41518715_41518717del , CM000681.1:g.41518715_41518717del | GRCh37 |
| NC_000019.8:g.46210555_46210557del | NCBI36 |
| NG_007929.1:g.26512_26514del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.1289_1291del MANE Select | ENSP00000324648.2:p.Ser430del | |
| ENST00000598834.2:c.1177-163_1177-161del | ||
| ENST00000324071.8:c.1289_1291del | ENSP00000324648.2:p.Ser430del | |
| ENST00000593831.1:c.581_583del | ENSP00000470582.1:p.Ser194del | |
| ENST00000597612.1:n.647+325_647+327del | ||
| NM_000767.4:c.1289_1291del | NP_000758.1:p.Ser430del | |
| XM_005258569.3:c.1152+325_1152+327del | XP_005258626.1:n.1152+325_1152+327del | |
| XM_006723050.2:c.1289_1291del | XP_006723113.1:p.Ser430del | |
| XM_011526546.1:c.1153-6_1153-4del | XP_011524848.1:n.1153-6_1153-4del | |
| XM_011526547.1:c.1153-163_1153-161del | XP_011524849.1:n.1153-163_1153-161del | |
| XM_011526548.1:c.809_811del | XP_011524850.1:p.Ser270del | |
| XM_011526549.1:c.698_700del | XP_011524851.1:p.Ser233del | |
| XM_011526550.1:c.689_691del | XP_011524852.1:p.Ser230del | |
| NM_000767.5:c.1289_1291del MANE Select | NP_000758.1:p.Ser430del |