Linked Data
gnomAD v4:
5-14716805-CGTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716807_14716809del , CM000667.2:g.14716807_14716809del | GRCh38 |
| NC_000005.9:g.14716916_14716918del , CM000667.1:g.14716916_14716918del | GRCh37 |
| NC_000005.8:g.14769916_14769918del | NCBI36 |
| NG_008273.1:g.159971_159973del | |
| NG_008273.2:g.159978_159980del | |
| NG_051625.1:g.61014_61016del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1039_1041del MANE Select | ENSP00000284268.6:p.Asn347del | |
| ENST00000284268.6:c.1039_1041del | ENSP00000284268.6:p.Asn347del | |
| ENST00000502585.1:n.281_283del | ||
| NM_054027.4:c.1039_1041del | NP_473368.1:p.Asn347del | |
| NM_054027.5:c.1039_1041del | NP_473368.1:p.Asn347del | |
| XM_017009644.2:c.955_957del | XP_016865133.1:p.Asn319del | |
| NM_054027.6:c.1039_1041del MANE Select | NP_473368.1:p.Asn347del |