Linked Data
ClinVar Variation Id:
92970
dbSNP Id:
rs398123377
ExAC:
6:129723611 ACTCATCT / A
gnomAD v2:
6-129723611-ACTCATCT-A
gnomAD v3:
6-129402466-ACTCATCT-A
gnomAD v4:
6-129402466-ACTCATCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129402467_129402473del , CM000668.2:g.129402467_129402473del | GRCh38 |
| NC_000006.11:g.129723612_129723618del , CM000668.1:g.129723612_129723618del | GRCh37 |
| NC_000006.10:g.129765305_129765311del | NCBI36 |
| NG_008678.1:g.524327_524333del , LRG_409:g.524327_524333del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617695.5:c.5706_5712del | ENSP00000481744.2:p.Asp1902GlufsTer? | |
| ENST00000618192.5:c.5970_5976del | ENSP00000480802.2:p.Asp1990GlufsTer? | |
| ENST00000421865.3:c.5706_5712del MANE Select | ENSP00000400365.2:p.Asp1902GlufsTer? | |
| ENST00000421865.2:c.5706_5712del | ENSP00000400365.2:p.Asp1902GlufsTer? | |
| ENST00000617695.4:c.5706_5712del | ENSP00000481744.1:p.Asp1902GlufsTer? | |
| ENST00000618192.4:c.5706_5712del | ENSP00000480802.1:p.Asp1902GlufsTer? | |
| NM_000426.3:c.5706_5712del , LRG_409t1:c.5706_5712del | NP_000417.2:p.Asp1902GlufsTer? | |
| NM_001079823.1:c.5706_5712del | NP_001073291.1:p.Asp1902GlufsTer? | |
| XM_005266981.2:c.5970_5976del | XP_005267038.1:p.Asp1990GlufsTer? | |
| XM_005266982.2:c.5970_5976del | XP_005267039.1:p.Asp1990GlufsTer? | |
| XM_011535820.1:c.5970_5976del | XP_011534122.1:p.Asp1990GlufsTer? | |
| XM_005266981.3:c.5970_5976del | XP_005267038.1:p.Asp1990GlufsTer? | |
| XM_005266982.3:c.5970_5976del | XP_005267039.1:p.Asp1990GlufsTer? | |
| XM_011535820.2:c.5970_5976del | XP_011534122.1:p.Asp1990GlufsTer? | |
| XM_017010851.2:c.5976_5982del | XP_016866340.1:p.Asp1992GlufsTer? | |
| XM_017010852.1:c.4101_4107del | XP_016866341.1:p.Asp1367GlufsTer? | |
| NM_000426.4:c.5706_5712del MANE Select | NP_000417.3:p.Asp1902GlufsTer? | |
| NM_001079823.2:c.5706_5712del | NP_001073291.2:p.Asp1902GlufsTer? |