Linked Data
gnomAD v3:
7-150950176-GCCACGACGACGTCGCCCCGCA-G
gnomAD v4:
7-150950176-GCCACGACGACGTCGCCCCGCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150950177_150950197del , CM000669.2:g.150950177_150950197del | GRCh38 |
| NC_000007.13:g.150647265_150647285del , CM000669.1:g.150647265_150647285del | GRCh37 |
| NC_000007.12:g.150278198_150278218del | NCBI36 |
| NG_008916.1:g.32730_32750del , LRG_288:g.32730_32750del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1667_1687del | ||
| ENST00000684241.1:n.3202_3222del | ||
| ENST00000262186.10:c.2369_2389del MANE Select | ENSP00000262186.5:p.Leu790_Ala797delinsPro | |
| ENST00000330883.9:c.1349_1369del | ENSP00000328531.4:p.Leu450_Ala457delinsPro | |
| ENST00000262186.9:c.2369_2389del | ENSP00000262186.5:p.Leu790_Ala797delinsPro | |
| ENST00000330883.8:c.1349_1369del | ENSP00000328531.4:p.Leu450_Ala457delinsPro | |
| ENST00000430723.4:c.2021_2041del | ENSP00000387657.4:p.Leu674_Ala681delinsPro | |
| ENST00000461280.1:n.1656_1676del | ||
| ENST00000473610.5:n.2001_2021del | ||
| ENST00000532957.5:n.2592_2612del | ||
| NM_000238.3:c.2369_2389del , LRG_288t1:c.2369_2389del | NP_000229.1:p.Leu790_Ala797delinsPro | |
| NM_001204798.1:c.1349_1369del | NP_001191727.1:p.Leu450_Ala457delinsPro | |
| NM_172056.2:c.2369_2389del , LRG_288t2:c.2369_2389del | NP_742053.1:p.Leu790_Ala797delinsPro | |
| NM_172057.2:c.1349_1369del , LRG_288t3:c.1349_1369del | NP_742054.1:p.Leu450_Ala457delinsPro | |
| XM_011516185.1:c.2069_2089del | XP_011514487.1:p.Leu690_Ala697delinsPro | |
| XM_011516186.1:c.2369_2389del | XP_011514488.1:p.Leu790_Ala797delinsPro | |
| XM_011516185.2:c.2069_2089del | XP_011514487.1:p.Leu690_Ala697delinsPro | |
| XM_011516186.3:c.2369_2389del | XP_011514488.1:p.Leu790_Ala797delinsPro | |
| XM_017012195.1:c.2219_2239del | XP_016867684.1:p.Leu740_Ala747delinsPro | |
| XM_017012196.1:c.2192_2212del | XP_016867685.1:p.Leu731_Ala738delinsPro | |
| NM_000238.4:c.2369_2389del MANE Select | NP_000229.1:p.Leu790_Ala797delinsPro | |
| NM_001204798.2:c.1349_1369del | NP_001191727.1:p.Leu450_Ala457delinsPro | |
| NM_172057.3:c.1349_1369del | NP_742054.1:p.Leu450_Ala457delinsPro |