Linked Data
dbSNP Id:
rs1567714242
gnomAD v2:
17-46024109-CGG-C
gnomAD v4:
17-47946743-CGG-C
MyVariant Identifiers:
chr17:g.46024110_46024111del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47946746_47946747del , CM000679.2:g.47946746_47946747del | GRCh38 |
| NC_000017.10:g.46024112_46024113del , CM000679.1:g.46024112_46024113del | GRCh37 |
| NC_000017.9:g.43379111_43379112del | NCBI36 |
| NG_008744.1:g.10224_10225del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225573.5:c.621_622del | ENSP00000225573.5:p.Glu208GlyfsTer6 | |
| ENST00000434554.7:c.696_697del | ENSP00000399960.3:p.Glu233GlyfsTer6 | |
| ENST00000582171.6:c.*415_*416del | ENSP00000463994.1:n.*415_*416del | |
| ENST00000584061.6:c.681_682del | ENSP00000463972.2:p.Glu228GlyfsTer6 | |
| ENST00000584806.2:n.419_420del | ||
| ENST00000641305.1:n.2249_2250del | ||
| ENST00000641323.1:c.*769_*770del | ENSP00000492965.1:n.*769_*770del | |
| ENST00000641427.1:n.750_751del | ||
| ENST00000641703.1:c.466_467del | ENSP00000493219.1:n.466_467del | |
| ENST00000641709.1:c.*572_*573del | ENSP00000493349.1:n.*572_*573del | |
| ENST00000641856.1:c.*1258_*1259del | ENSP00000493224.1:n.*1258_*1259del | |
| ENST00000642017.2:c.750_751del MANE Select | ENSP00000493302.2:p.Glu251GlyfsTer6 | |
| ENST00000225573.4:c.750_751del | ENSP00000225573.4:p.Glu251GlyfsTer6 | |
| ENST00000434554.6:c.621_622del | ENSP00000399960.2:p.Glu208GlyfsTer6 | |
| ENST00000582171.5:c.*415_*416del | ENSP00000463994.1:n.*415_*416del | |
| ENST00000584806.1:n.419_420del | ||
| ENST00000585320.5:c.*232_*233del | ENSP00000462345.1:n.*232_*233del | |
| NM_018129.3:c.750_751del | NP_060599.1:p.Glu251GlyfsTer6 | |
| XM_005257500.2:c.510_511del | XP_005257557.1:p.Glu171GlyfsTer6 | |
| XM_011524968.1:c.465_466del | XP_011523270.1:p.Glu156GlyfsTer6 | |
| XM_005257500.3:c.510_511del | XP_005257557.1:p.Glu171GlyfsTer6 | |
| XM_011524968.2:c.465_466del | XP_011523270.1:p.Glu156GlyfsTer6 | |
| XM_017024813.1:c.510_511del | XP_016880302.1:p.Glu171GlyfsTer6 | |
| NM_018129.4:c.750_751del MANE Select | NP_060599.1:p.Glu251GlyfsTer6 |