Linked Data
dbSNP Id:
rs1242197341
gnomAD v3:
11-9141791-AGGAAATTCAGG-A
gnomAD v4:
11-9141791-AGGAAATTCAGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9141793_9141803del , CM000673.2:g.9141793_9141803del | GRCh38 |
| NC_000011.9:g.9163340_9163350del , CM000673.1:g.9163340_9163350del | GRCh37 |
| NC_000011.8:g.9119916_9119926del | NCBI36 |
| NG_053019.1:g.128534_128544del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328194.8:c.3680+138_3680+148del MANE Select | ENSP00000328524.3:n.3680+138_3680+148del | |
| ENST00000525784.6:n.1542+138_1542+148del | ||
| ENST00000530780.2:c.*3506+138_*3506+148del | ENSP00000433925.1:n.*3506+138_*3506+148del | |
| ENST00000531747.2:n.3351+138_3351+148del | ||
| ENST00000679446.1:n.3739_3749del | ||
| ENST00000679458.1:n.5081+138_5081+148del | ||
| ENST00000679460.1:n.4742+138_4742+148del | ||
| ENST00000679568.1:c.3680+138_3680+148del | ENSP00000505860.1:n.3680+138_3680+148del | |
| ENST00000679745.1:n.4185+138_4185+148del | ||
| ENST00000679773.1:n.2841+138_2841+148del | ||
| ENST00000679926.1:n.4982+138_4982+148del | ||
| ENST00000679999.1:c.*737+138_*737+148del | ENSP00000505198.1:n.*737+138_*737+148del | |
| ENST00000680252.1:c.3347+138_3347+148del | ||
| ENST00000680294.1:c.3473+138_3473+148del | ENSP00000506113.1:n.3473+138_3473+148del | |
| ENST00000680358.1:n.2979+138_2979+148del | ||
| ENST00000680470.1:c.*1461+138_*1461+148del | ENSP00000505975.1:n.*1461+138_*1461+148del | |
| ENST00000680554.1:c.*213+138_*213+148del | ENSP00000505621.1:n.*213+138_*213+148del | |
| ENST00000680576.1:n.5294_5304del | ||
| ENST00000680599.1:n.3721+138_3721+148del | ||
| ENST00000680742.1:c.*179+172_*179+182del | ENSP00000505206.1:n.*179+172_*179+182del | |
| ENST00000680791.1:n.2564+138_2564+148del | ||
| ENST00000680885.1:n.5382+138_5382+148del | ||
| ENST00000681158.1:c.3264+138_3264+148del | ||
| ENST00000681203.1:c.3608+138_3608+148del | ENSP00000506456.1:n.3608+138_3608+148del | |
| ENST00000681371.1:n.3552+138_3552+148del | ||
| ENST00000681425.1:n.4158+138_4158+148del | ||
| ENST00000681639.1:n.1959+138_1959+148del | ||
| ENST00000328194.7:c.3680+138_3680+148del | ENSP00000328524.3:n.3680+138_3680+148del | |
| ENST00000525784.5:c.616+138_616+148del | ||
| ENST00000527700.5:n.3242+138_3242+148del | ||
| ENST00000528725.5:c.376+138_376+148del | ||
| ENST00000529977.5:n.1581+138_1581+148del | ||
| ENST00000530044.5:c.3646+172_3646+182del | ENSP00000435866.1:n.3646+172_3646+182del | |
| ENST00000533737.5:c.343+138_343+148del | ||
| NM_001243254.1:c.3646+172_3646+182del | NP_001230183.1:n.3646+172_3646+182del | |
| NM_015213.3:c.3680+138_3680+148del | NP_056028.2:n.3680+138_3680+148del | |
| XM_005252832.1:c.3680+138_3680+148del | XP_005252889.1:n.3680+138_3680+148del | |
| XM_011519952.1:c.3646+172_3646+182del | XP_011518254.1:n.3646+172_3646+182del | |
| XM_011519953.1:c.1778+138_1778+148del | XP_011518255.1:n.1778+138_1778+148del | |
| XR_242782.2:n.3862+138_3862+148del | ||
| XR_930851.1:n.3828+172_3828+182del | ||
| NM_001348749.1:c.3608+138_3608+148del | NP_001335678.1:n.3608+138_3608+148del | |
| NM_001348750.1:c.3392+138_3392+148del | NP_001335679.1:n.3392+138_3392+148del | |
| NR_145966.2:n.3854+138_3854+148del | ||
| NM_015213.4:c.3680+138_3680+148del MANE Select | NP_056028.2:n.3680+138_3680+148del | |
| NM_001243254.2:c.3646+172_3646+182del | NP_001230183.1:n.3646+172_3646+182del | |
| NM_001348749.2:c.3608+138_3608+148del | NP_001335678.1:n.3608+138_3608+148del | |
| NM_001348750.2:c.3392+138_3392+148del | NP_001335679.1:n.3392+138_3392+148del |