Linked Data
ClinVar Variation Id:
817315
ClinVar RCV Id:
RCV001008435
dbSNP Id:
rs1598477502
gnomAD v4:
17-75522069-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75522072del , CM000679.2:g.75522072del | GRCh38 |
| NC_000017.10:g.73518153del , CM000679.1:g.73518153del | GRCh37 |
| NC_000017.9:g.71029748del | NCBI36 |
| NG_013041.1:g.10545del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.991del MANE Select | ENSP00000327487.6:p.Glu331ArgfsTer11 | |
| ENST00000434205.8:c.688del | ENSP00000406559.4:p.Glu230ArgfsTer11 | |
| ENST00000545228.3:c.991del | ENSP00000438169.3:p.Glu331ArgfsTer11 | |
| ENST00000579449.2:n.790del | ||
| ENST00000580013.6:n.1194del | ||
| ENST00000679370.1:n.1572del | ||
| ENST00000679429.1:c.*449del | ENSP00000505403.1:n.*449del | |
| ENST00000679443.1:n.1060del | ||
| ENST00000679782.1:c.991del | ENSP00000505995.1:p.Glu331ArgfsTer11 | |
| ENST00000679919.1:n.1060del | ||
| ENST00000679928.1:c.*602del | ENSP00000506071.1:n.*602del | |
| ENST00000680528.1:n.1016del | ||
| ENST00000680999.1:c.991del | ENSP00000504984.1:p.Glu331ArgfsTer11 | |
| ENST00000681282.1:c.*237del | ENSP00000506339.1:n.*237del | |
| ENST00000333213.10:c.991del | ENSP00000327487.6:p.Glu331ArgfsTer11 | |
| ENST00000545228.2:c.80del | ||
| ENST00000578415.1:c.951del | ||
| ENST00000583173.5:c.524del | ENSP00000463619.1:p.Gly175GlufsTer? | |
| NM_207346.2:c.991del | NP_997229.2:p.Glu331ArgfsTer11 | |
| XM_005257229.2:c.991del | XP_005257286.1:p.Glu331ArgfsTer11 | |
| XM_006721821.2:c.688del | XP_006721884.1:p.Glu230ArgfsTer11 | |
| XM_011524616.1:c.991del | XP_011522918.1:p.Glu331ArgfsTer11 | |
| XM_011524617.1:c.991del | XP_011522919.1:p.Glu331ArgfsTer11 | |
| XM_011524618.1:c.991del | XP_011522920.1:p.Glu331ArgfsTer11 | |
| XR_243646.2:n.1021del | ||
| XM_005257229.4:c.991del | XP_005257286.1:p.Glu331ArgfsTer11 | |
| XR_243646.4:n.1027del | ||
| NM_207346.3:c.991del MANE Select | NP_997229.2:p.Glu331ArgfsTer11 |