Linked Data
dbSNP Id:
rs763254263
ExAC:
7:94030957 CA / C
gnomAD v2:
7-94030957-CA-C
gnomAD v3:
7-94401645-CA-C
gnomAD v4:
7-94401645-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94401652del , CM000669.2:g.94401652del | GRCh38 |
| NC_000007.13:g.94030964del , CM000669.1:g.94030964del | GRCh37 |
| NC_000007.12:g.93868900del | NCBI36 |
| NG_007405.1:g.12092del , LRG_2:g.12092del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.279+32del MANE Select | ENSP00000297268.6:n.279+32del | |
| ENST00000297268.10:c.279+32del | ENSP00000297268.6:n.279+32del | |
| ENST00000620463.1:c.273+32del | ENSP00000477719.1:n.273+32del | |
| NM_000089.3:c.279+32del , LRG_2t1:c.279+32del | NP_000080.2:n.279+32del | |
| NM_000089.4:c.279+32del MANE Select | NP_000080.2:n.279+32del |