Linked Data
dbSNP Id:
rs768405896
gnomAD v2:
1-154437687-TGGTCCCGGAGA-T
gnomAD v4:
1-154465211-TGGTCCCGGAGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154465214_154465224del , CM000663.2:g.154465214_154465224del | GRCh38 |
| NC_000001.10:g.154437690_154437700del , CM000663.1:g.154437690_154437700del | GRCh37 |
| NC_000001.9:g.152704314_152704324del | NCBI36 |
| NG_012087.1:g.65022_65032del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368485.8:c.1241_1251del MANE Select | ENSP00000357470.3:p.Val414AlafsTer23 | |
| ENST00000344086.8:c.*49_*59del | ENSP00000340589.4:n.*49_*59del | |
| ENST00000368485.7:c.1241_1251del | ENSP00000357470.3:p.Val414AlafsTer23 | |
| ENST00000502679.1:n.554_564del | ||
| ENST00000507256.1:n.439_449del | ||
| NM_000565.3:c.1241_1251del | NP_000556.1:p.Val414AlafsTer23 | |
| NM_181359.2:c.*49_*59del | NP_852004.1:n.*49_*59del | |
| XM_005245139.1:c.1005_1015del | XP_005245196.1:p.Pro336LeufsTer? | |
| XM_005245140.1:c.*82_*92del | XP_005245197.1:n.*82_*92del | |
| XM_006711298.1:c.1289_1299del | XP_006711361.1:p.Val430AlafsTer23 | |
| XM_006711299.2:c.*49_*59del | XP_006711362.1:n.*49_*59del | |
| XM_005245139.2:c.1005_1015del | XP_005245196.1:p.Pro336LeufsTer? | |
| XM_005245140.3:c.*82_*92del | XP_005245197.1:n.*82_*92del | |
| XM_006711298.2:c.1289_1299del | XP_006711361.1:p.Val430AlafsTer23 | |
| XM_006711299.4:c.*49_*59del | XP_006711362.1:n.*49_*59del | |
| XM_017001199.2:c.1388_1398del | XP_016856688.1:p.Val463AlafsTer23 | |
| XM_017001200.2:c.1340_1350del | XP_016856689.1:p.Val447AlafsTer23 | |
| XM_017001201.2:c.*82_*92del | XP_016856690.1:n.*82_*92del | |
| NM_000565.4:c.1241_1251del MANE Select | NP_000556.1:p.Val414AlafsTer23 | |
| NM_181359.3:c.*49_*59del | NP_852004.1:n.*49_*59del | |
| NM_001382769.1:c.1340_1350del | NP_001369698.1:p.Val447AlafsTer23 | |
| NM_001382770.1:c.1334_1344del | NP_001369699.1:p.Val445AlafsTer23 | |
| NM_001382771.1:c.1289_1299del | NP_001369700.1:p.Val430AlafsTer23 | |
| NM_001382772.1:c.1235_1245del | NP_001369701.1:p.Val412AlafsTer23 | |
| NM_001382773.1:c.*49_*59del | NP_001369702.1:n.*49_*59del | |
| NM_001382774.1:c.881_891del | NP_001369703.1:p.Val294AlafsTer23 |