Linked Data
dbSNP Id:
rs1215207350
gnomAD v2:
12-88471168-CAA-C
gnomAD v3:
12-88077391-CAA-C
gnomAD v4:
12-88077391-CAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88077394_88077395del , CM000674.2:g.88077394_88077395del | GRCh38 |
| NC_000012.11:g.88471171_88471172del , CM000674.1:g.88471171_88471172del | GRCh37 |
| NC_000012.10:g.86995302_86995303del | NCBI36 |
| NG_008417.1:g.69824_69825del | |
| NG_008417.2:g.69824_69825del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.5587-49_5587-48del | ENSP00000308021.8:n.5587-49_5587-48del | |
| ENST00000547691.8:c.2871-49_2871-48del | ||
| ENST00000552810.6:c.5587-49_5587-48del MANE Select | ENSP00000448012.1:n.5587-49_5587-48del | |
| ENST00000672414.2:c.*3758-49_*3758-48del | ENSP00000500729.1:n.*3758-49_*3758-48del | |
| ENST00000672647.1:n.3947-49_3947-48del | ||
| ENST00000673058.2:c.5587-49_5587-48del | ENSP00000500665.2:n.5587-49_5587-48del | |
| ENST00000674971.1:c.5587-49_5587-48del | ENSP00000502194.1:n.5587-49_5587-48del | |
| ENST00000675230.1:c.5566-49_5566-48del | ENSP00000502503.1:n.5566-49_5566-48del | |
| ENST00000675408.1:c.5587-49_5587-48del | ENSP00000502298.1:n.5587-49_5587-48del | |
| ENST00000675476.1:c.6448-49_6448-48del | ENSP00000502161.1:n.6448-49_6448-48del | |
| ENST00000675628.1:n.5814-49_5814-48del | ||
| ENST00000675794.1:c.*3758-49_*3758-48del | ENSP00000502841.1:n.*3758-49_*3758-48del | |
| ENST00000675833.1:c.6355-49_6355-48del | ENSP00000502559.1:n.6355-49_6355-48del | |
| ENST00000675894.1:n.1892-49_1892-48del | ||
| ENST00000676074.1:c.5587-49_5587-48del | ENSP00000502079.1:n.5587-49_5587-48del | |
| ENST00000676181.1:n.4515-49_4515-48del | ||
| ENST00000676363.1:n.11313-49_11313-48del | ||
| ENST00000676448.1:c.*3500-49_*3500-48del | ENSP00000501987.1:n.*3500-49_*3500-48del | |
| ENST00000309041.11:c.5593-49_5593-48del | ENSP00000308021.7:n.5593-49_5593-48del | |
| ENST00000547691.6:c.2767-49_2767-48del | ENSP00000446905.1:n.2767-49_2767-48del | |
| ENST00000552810.5:c.5587-49_5587-48del | ENSP00000448012.1:n.5587-49_5587-48del | |
| NM_025114.3:c.5587-49_5587-48del | NP_079390.3:n.5587-49_5587-48del | |
| XM_011538756.1:c.6448-49_6448-48del | XP_011537058.1:n.6448-49_6448-48del | |
| XM_011538757.1:c.6448-49_6448-48del | XP_011537059.1:n.6448-49_6448-48del | |
| XM_011538758.1:c.6448-49_6448-48del | XP_011537060.1:n.6448-49_6448-48del | |
| XM_011538759.1:c.6448-49_6448-48del | XP_011537061.1:n.6448-49_6448-48del | |
| XM_011538760.1:c.6448-49_6448-48del | XP_011537062.1:n.6448-49_6448-48del | |
| XM_011538761.1:c.6448-49_6448-48del | XP_011537063.1:n.6448-49_6448-48del | |
| XM_011538762.1:c.5680-49_5680-48del | XP_011537064.1:n.5680-49_5680-48del | |
| XM_011538763.1:c.5587-49_5587-48del | XP_011537065.1:n.5587-49_5587-48del | |
| XM_011538764.1:c.6448-49_6448-48del | XP_011537066.1:n.6448-49_6448-48del | |
| XM_011538765.1:c.6448-49_6448-48del | XP_011537067.1:n.6448-49_6448-48del | |
| XM_011538766.1:c.4909-49_4909-48del | XP_011537068.1:n.4909-49_4909-48del | |
| XR_945163.1:n.968-4919_968-4918del | ||
| XM_011538756.3:c.6448-49_6448-48del | XP_011537058.1:n.6448-49_6448-48del | |
| XM_011538757.3:c.6448-49_6448-48del | XP_011537059.1:n.6448-49_6448-48del | |
| XM_011538758.3:c.6448-49_6448-48del | XP_011537060.1:n.6448-49_6448-48del | |
| XM_011538759.2:c.6448-49_6448-48del | XP_011537061.1:n.6448-49_6448-48del | |
| XM_011538760.2:c.6448-49_6448-48del | XP_011537062.1:n.6448-49_6448-48del | |
| XM_011538761.2:c.6448-49_6448-48del | XP_011537063.1:n.6448-49_6448-48del | |
| XM_011538762.3:c.5680-49_5680-48del | XP_011537064.1:n.5680-49_5680-48del | |
| XM_011538763.3:c.5587-49_5587-48del | XP_011537065.1:n.5587-49_5587-48del | |
| XM_011538764.3:c.6448-49_6448-48del | XP_011537066.1:n.6448-49_6448-48del | |
| XM_011538765.3:c.6448-49_6448-48del | XP_011537067.1:n.6448-49_6448-48del | |
| XM_011538766.3:c.4909-49_4909-48del | XP_011537068.1:n.4909-49_4909-48del | |
| XM_017019980.2:c.6448-49_6448-48del | XP_016875469.1:n.6448-49_6448-48del | |
| XM_017019981.2:c.6448-49_6448-48del | XP_016875470.1:n.6448-49_6448-48del | |
| XM_017019982.1:c.6448-49_6448-48del | XP_016875471.1:n.6448-49_6448-48del | |
| XM_017019983.2:c.5566-49_5566-48del | XP_016875472.1:n.5566-49_5566-48del | |
| XR_001748869.1:n.6792-49_6792-48del | ||
| XR_001748870.2:n.6792-49_6792-48del | ||
| NM_025114.4:c.5587-49_5587-48del MANE Select | NP_079390.3:n.5587-49_5587-48del |