Linked Data
ClinVar Variation Id:
477529
dbSNP Id:
rs1209130981
gnomAD v2:
6-129470152-CAT-C
gnomAD v4:
6-129149007-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129149008_129149009del , CM000668.2:g.129149008_129149009del | GRCh38 |
| NC_000006.11:g.129470153_129470154del , CM000668.1:g.129470153_129470154del | GRCh37 |
| NC_000006.10:g.129511846_129511847del | NCBI36 |
| NG_008678.1:g.270868_270869del , LRG_409:g.270868_270869del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.939_940del | ENSP00000481744.2:p.Cys314TrpfsTer3 | |
| ENST00000618192.5:c.939_940del | ENSP00000480802.2:p.Cys314TrpfsTer3 | |
| ENST00000685128.1:n.468_469del | ||
| ENST00000686577.1:n.1005_1006del | ||
| ENST00000686599.1:n.1044_1045del | ||
| ENST00000690881.1:n.402_403del | ||
| ENST00000421865.3:c.939_940del MANE Select | ENSP00000400365.2:p.Cys314TrpfsTer3 | |
| ENST00000421865.2:c.939_940del | ENSP00000400365.2:p.Cys314TrpfsTer3 | |
| ENST00000617695.4:c.939_940del | ENSP00000481744.1:p.Cys314TrpfsTer3 | |
| ENST00000618192.4:c.939_940del | ENSP00000480802.1:p.Cys314TrpfsTer3 | |
| NM_000426.3:c.939_940del , LRG_409t1:c.939_940del | NP_000417.2:p.Cys314TrpfsTer3 | |
| NM_001079823.1:c.939_940del | NP_001073291.1:p.Cys314TrpfsTer3 | |
| XM_005266981.2:c.939_940del | XP_005267038.1:p.Cys314TrpfsTer3 | |
| XM_005266982.2:c.939_940del | XP_005267039.1:p.Cys314TrpfsTer3 | |
| XM_011535820.1:c.939_940del | XP_011534122.1:p.Cys314TrpfsTer3 | |
| XM_005266981.3:c.939_940del | XP_005267038.1:p.Cys314TrpfsTer3 | |
| XM_005266982.3:c.939_940del | XP_005267039.1:p.Cys314TrpfsTer3 | |
| XM_011535820.2:c.939_940del | XP_011534122.1:p.Cys314TrpfsTer3 | |
| XM_017010851.2:c.945_946del | XP_016866340.1:p.Cys316TrpfsTer3 | |
| XM_017010853.1:c.939_940del | XP_016866342.1:p.Cys314TrpfsTer3 | |
| NM_000426.4:c.939_940del MANE Select | NP_000417.3:p.Cys314TrpfsTer3 | |
| NM_001079823.2:c.939_940del | NP_001073291.2:p.Cys314TrpfsTer3 |