Linked Data
ClinVar Variation Id:
1810145
ClinVar RCV Id:
RCV002508701
dbSNP Id:
rs1311131247
gnomAD v2:
9-126139300-GAC-G
gnomAD v4:
9-123377021-GAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.123377023_123377024del , CM000671.2:g.123377023_123377024del | GRCh38 |
| NC_000009.11:g.126139302_126139303del , CM000671.1:g.126139302_126139303del | GRCh37 |
| NC_000009.10:g.125179123_125179124del | NCBI36 |
| NG_051311.1:g.27959_27960del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373631.8:c.3819_3820del MANE Select | ENSP00000362734.3:p.Asp1273GlufsTer? | |
| ENST00000373631.7:c.3819_3820del | ENSP00000362734.3:p.Asp1273GlufsTer? | |
| ENST00000460253.1:c.2823_2824del | ENSP00000435279.1:p.Asp941GlufsTer? | |
| NM_173689.6:c.3819_3820del | NP_775960.4:p.Asp1273GlufsTer? | |
| NR_104603.1:n.2933_2934del | ||
| XM_005251934.1:c.2823_2824del | XP_005251991.1:p.Asp941GlufsTer? | |
| XM_011518556.1:c.3792_3793del | XP_011516858.1:p.Asp1264GlufsTer? | |
| XM_011518557.1:c.3624_3625del | XP_011516859.1:p.Asp1208GlufsTer? | |
| XM_011518558.1:c.3624_3625del | XP_011516860.1:p.Asp1208GlufsTer? | |
| XM_005251934.3:c.2823_2824del | XP_005251991.1:p.Asp941GlufsTer? | |
| XM_011518556.3:c.3792_3793del | XP_011516858.1:p.Asp1264GlufsTer? | |
| XM_011518557.3:c.3624_3625del | XP_011516859.1:p.Asp1208GlufsTer? | |
| XM_011518558.3:c.3624_3625del | XP_011516860.1:p.Asp1208GlufsTer? | |
| NM_173689.7:c.3819_3820del MANE Select | NP_775960.4:p.Asp1273GlufsTer? | |
| NR_104603.2:n.2933_2934del |