Linked Data
dbSNP Id:
rs1442968137
gnomAD v3:
7-74789281-TC-T
gnomAD v4:
7-74789281-TC-T
MyVariant Identifiers:
chr7:g.74789282del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74789284del , CM000669.2:g.74789284del | GRCh38 |
| NC_000007.13:g.74203628del , CM000669.1:g.74203628del | GRCh37 |
| NC_000007.12:g.73841564del | NCBI36 |
| NG_009078.2:g.20321del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289473.11:c.*124del MANE Select | ENSP00000289473.4:n.*124del | |
| ENST00000289473.10:c.*124del | ENSP00000289473.4:n.*124del | |
| ENST00000289473.8:c.*124del | ENSP00000289473.4:n.*124del | |
| ENST00000398421.6:n.2324del | ||
| ENST00000455062.2:n.1406del | ||
| NM_000265.5:c.*124del | NP_000256.4:n.*124del | |
| XM_005250543.3:c.*218del | XP_005250600.2:n.*218del | |
| XM_011516498.1:c.*171del | XP_011514800.1:n.*171del | |
| XM_011516501.1:c.*124del | XP_011514803.1:n.*124del | |
| NM_000265.6:c.*124del | NP_000256.4:n.*124del | |
| NM_000265.7:c.*124del MANE Select | NP_000256.4:n.*124del |