Linked Data
dbSNP Id:
rs762921138
ExAC:
1:230841814 GAGA / G
gnomAD v2:
1-230841814-GAGA-G
gnomAD v4:
1-230706068-GAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230706071_230706073del , CM000663.2:g.230706071_230706073del | GRCh38 |
| NC_000001.10:g.230841817_230841819del , CM000663.1:g.230841817_230841819del | GRCh37 |
| NC_000001.9:g.228908440_228908442del | NCBI36 |
| NG_008836.1:g.13520_13522del | |
| NG_008836.2:g.13520_13522del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366667.6:c.959_961del MANE Select | ENSP00000355627.5:p.Phe320del | |
| ENST00000679684.1:c.959_961del | ENSP00000505981.1:p.Phe320del | |
| ENST00000679738.1:c.959_961del | ENSP00000505063.1:p.Phe320del | |
| ENST00000679802.1:c.*418_*420del | ENSP00000505184.1:n.*418_*420del | |
| ENST00000679854.1:n.5264_5266del | ||
| ENST00000679957.1:c.959_961del | ENSP00000506646.1:p.Phe320del | |
| ENST00000680041.1:c.959_961del | ENSP00000504866.1:p.Phe320del | |
| ENST00000680783.1:c.829+3924_829+3926del | ENSP00000506329.1:n.829+3924_829+3926del | |
| ENST00000681269.1:c.959_961del | ENSP00000505985.1:p.Phe320del | |
| ENST00000681347.1:n.1470_1472del | ||
| ENST00000681514.1:c.959_961del | ENSP00000505963.1:p.Phe320del | |
| ENST00000681772.1:c.959_961del | ENSP00000505829.1:p.Phe320del | |
| ENST00000366667.4:c.986_988del | ENSP00000355627.4:p.Phe329del | |
| NM_000029.3:c.986_988del | NP_000020.1:p.Phe329del | |
| NM_000029.4:c.986_988del | NP_000020.1:p.Phe329del | |
| NM_001382817.3:c.959_961del | NP_001369746.2:p.Phe320del | |
| NM_001384479.1:c.959_961del MANE Select | NP_001371408.1:p.Phe320del |