Linked Data
ClinVar Variation Id:
977379
ClinVar RCV Id:
RCV001255012
dbSNP Id:
rs1375539065
gnomAD v2:
5-89913745-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90617931_90617932del , CM000667.2:g.90617931_90617932del | GRCh38 |
| NC_000005.9:g.89913748_89913749del , CM000667.1:g.89913748_89913749del | GRCh37 |
| NC_000005.8:g.89949504_89949505del | NCBI36 |
| NG_007083.1:g.64132_64133del | |
| NG_007083.2:g.93588_93589del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.335_336del MANE Select | ENSP00000384582.2:p.Phe112TyrfsTer29 | |
| ENST00000638316.1:n.545_546del | ||
| ENST00000638638.1:n.742_743del | ||
| ENST00000640083.1:n.40_41del | ||
| ENST00000640109.1:n.431_432del | ||
| ENST00000640281.1:n.394_395del | ||
| ENST00000405460.6:c.335_336del | ENSP00000384582.2:p.Phe112TyrfsTer29 | |
| ENST00000508842.5:c.347_348del | ENSP00000425936.1:p.Phe116TyrfsTer15 | |
| NM_032119.3:c.335_336del | NP_115495.3:p.Phe112TyrfsTer29 | |
| NR_003149.1:n.431_432del | ||
| XM_011543675.1:c.335_336del | XP_011541977.1:p.Phe112TyrfsTer29 | |
| XM_011543676.1:c.335_336del | XP_011541978.1:p.Phe112TyrfsTer29 | |
| XM_011543678.1:c.335_336del | XP_011541980.1:p.Phe112TyrfsTer29 | |
| XM_011543679.1:c.335_336del | XP_011541981.1:p.Phe112TyrfsTer29 | |
| NM_032119.4:c.335_336del MANE Select | NP_115495.3:p.Phe112TyrfsTer29 | |
| XM_017009963.2:c.335_336del | XP_016865452.1:p.Phe112TyrfsTer29 | |
| XM_017009964.2:c.335_336del | XP_016865453.1:p.Phe112TyrfsTer29 | |
| XM_017009965.1:c.332_333del | XP_016865454.1:p.Phe111TyrfsTer29 | |
| XM_017009966.2:c.335_336del | XP_016865455.1:p.Phe112TyrfsTer29 | |
| XM_017009967.1:c.335_336del | XP_016865456.1:p.Phe112TyrfsTer15 | |
| XM_017009968.2:c.335_336del | XP_016865457.1:p.Phe112TyrfsTer29 | |
| XM_017009969.2:c.335_336del | XP_016865458.1:p.Phe112TyrfsTer29 | |
| XM_017009970.2:c.335_336del | XP_016865459.1:p.Phe112TyrfsTer29 | |
| XM_017009971.2:c.335_336del | XP_016865460.1:p.Phe112TyrfsTer29 | |
| XM_017009974.2:c.335_336del | XP_016865463.1:p.Phe112TyrfsTer29 | |
| NR_003149.2:n.434_435del |