Linked Data
dbSNP Id:
rs1242115503
gnomAD v2:
12-25362768-CTTT-C
gnomAD v3:
12-25209834-CTTT-C
gnomAD v4:
12-25209834-CTTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25209837_25209839del , CM000674.2:g.25209837_25209839del | GRCh38 |
| NC_000012.11:g.25362771_25362773del , CM000674.1:g.25362771_25362773del | GRCh37 |
| NC_000012.10:g.25254038_25254040del | NCBI36 |
| NG_007524.1:g.46084_46086del | |
| NG_007524.2:g.46167_46169del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557334.6:c.186_188del | ENSP00000452512.1:p.Lys63del | |
| ENST00000685328.1:c.525_527del | ENSP00000508921.1:p.Lys176del | |
| ENST00000686877.1:c.*496_*498del | ENSP00000510431.1:n.*496_*498del | |
| ENST00000687356.1:c.*223_*225del | ENSP00000510511.1:n.*223_*225del | |
| ENST00000688228.1:n.999_1001del | ||
| ENST00000688940.1:c.525_527del | ENSP00000509238.1:p.Lys176del | |
| ENST00000690406.1:c.328_330del | ||
| ENST00000690804.1:c.*486_*488del | ENSP00000508568.1:n.*486_*488del | |
| ENST00000692768.1:c.327_329del | ENSP00000510254.1:p.Lys110del | |
| ENST00000693229.1:c.450_452del | ENSP00000509223.1:p.Lys151del | |
| ENST00000256078.10:c.*79_*81del MANE Plus Clinical | ENSP00000256078.5:n.*79_*81del | |
| ENST00000311936.8:c.525_527del MANE Select | ENSP00000308495.3:p.Lys176del | |
| ENST00000256078.8:c.*79_*81del | ENSP00000256078.4:n.*79_*81del | |
| ENST00000311936.7:c.525_527del | ENSP00000308495.3:p.Lys176del | |
| ENST00000557334.5:c.186_188del | ENSP00000452512.1:p.Lys63del | |
| NM_004985.4:c.525_527del | NP_004976.2:p.Lys176del | |
| NM_033360.3:c.*79_*81del | NP_203524.1:n.*79_*81del | |
| XM_006719069.2:c.*79_*81del | XP_006719132.1:n.*79_*81del | |
| XM_011520653.1:c.525_527del | XP_011518955.1:p.Lys176del | |
| XM_006719069.4:c.*79_*81del | XP_006719132.1:n.*79_*81del | |
| XM_011520653.3:c.525_527del | XP_011518955.1:p.Lys176del | |
| NM_001369786.1:c.*79_*81del | NP_001356715.1:n.*79_*81del | |
| NM_001369787.1:c.525_527del | NP_001356716.1:p.Lys176del | |
| NM_004985.5:c.525_527del MANE Select | NP_004976.2:p.Lys176del | |
| NM_033360.4:c.*79_*81del MANE Plus Clinical | NP_203524.1:n.*79_*81del |