Linked Data
dbSNP Id:
rs1567567921
gnomAD v2:
17-7127384-GTA-G
gnomAD v4:
17-7224065-GTA-G
MyVariant Identifiers:
chr17:g.7127385_7127386del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224067_7224068del , CM000679.2:g.7224067_7224068del | GRCh38 |
| NC_000017.10:g.7127386_7127387del , CM000679.1:g.7127386_7127387del | GRCh37 |
| NC_000017.9:g.7068110_7068111del | NCBI36 |
| NG_007975.1:g.9234_9235del | |
| NG_008391.2:g.984_985del | |
| NG_033038.1:g.15478_15479del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1432_1433del MANE Select | ENSP00000349297.5:p.Met478GlyfsTer? | |
| ENST00000322910.9:c.*1387_*1388del | ENSP00000325395.5:n.*1387_*1388del | |
| ENST00000350303.9:c.1366_1367del | ENSP00000344152.5:p.Met456GlyfsTer? | |
| ENST00000356839.9:c.1432_1433del | ENSP00000349297.5:p.Met478GlyfsTer? | |
| ENST00000542255.6:c.290_291del | ||
| ENST00000543245.6:c.1501_1502del | ENSP00000438689.2:p.Met501GlyfsTer? | |
| ENST00000578711.1:n.563_564del | ||
| ENST00000579425.5:n.548_549del | ||
| ENST00000579546.1:c.269_270del | ||
| ENST00000579894.5:n.143_144del | ||
| ENST00000583074.5:n.151_152del | ||
| ENST00000583850.5:n.207_208del | ||
| ENST00000583858.5:c.461_462del | ||
| ENST00000585203.6:n.623_624del | ||
| NM_000018.3:c.1432_1433del | NP_000009.1:p.Met478GlyfsTer? | |
| NM_001033859.2:c.1366_1367del | NP_001029031.1:p.Met456GlyfsTer? | |
| NM_001270447.1:c.1501_1502del | NP_001257376.1:p.Met501GlyfsTer? | |
| NM_001270448.1:c.1204_1205del | NP_001257377.1:p.Met402GlyfsTer? | |
| XM_006721516.2:c.1432_1433del | XP_006721579.2:p.Met478GlyfsTer? | |
| XM_011523829.1:c.1432_1433del | XP_011522131.1:p.Met478GlyfsTer9 | |
| XM_011523830.1:c.1432_1433del | XP_011522132.1:p.Met478GlyfsTer9 | |
| XR_934021.1:n.1539_1540del | ||
| XR_934022.1:n.1539_1540del | ||
| XR_934023.1:n.1539_1540del | ||
| XM_006721516.3:c.1432_1433del | XP_006721579.2:p.Met478GlyfsTer? | |
| XM_011523829.2:c.1432_1433del | XP_011522131.1:p.Met478GlyfsTer9 | |
| XM_011523830.2:c.1432_1433del | XP_011522132.1:p.Met478GlyfsTer9 | |
| XM_024450741.1:c.1432_1433del | XP_024306509.1:p.Met478GlyfsTer9 | |
| XR_934021.2:n.1491_1492del | ||
| XR_934022.2:n.1491_1492del | ||
| XR_934023.2:n.1491_1492del | ||
| NM_000018.4:c.1432_1433del MANE Select | NP_000009.1:p.Met478GlyfsTer? | |
| NM_001033859.3:c.1366_1367del | NP_001029031.1:p.Met456GlyfsTer? | |
| NM_001270447.2:c.1501_1502del | NP_001257376.1:p.Met501GlyfsTer? | |
| NM_001270448.2:c.1204_1205del | NP_001257377.1:p.Met402GlyfsTer? |