Linked Data
ClinVar Variation Id:
290625
dbSNP Id:
rs753650776
ExAC:
17:48245837 GA / G
gnomAD v2:
17-48245837-GA-G
gnomAD v3:
17-50168476-GA-G
gnomAD v4:
17-50168476-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50168477del , CM000679.2:g.50168477del | GRCh38 |
| NC_000017.10:g.48245838del , CM000679.1:g.48245838del | GRCh37 |
| NC_000017.9:g.45600837del | NCBI36 |
| NG_008889.1:g.7473del , LRG_203:g.7473del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000504073.2:c.489del | ENSP00000422030.2:p.Leu164SerfsTer? | |
| ENST00000511303.6:n.214del | ||
| ENST00000512526.2:c.480del | ENSP00000426606.2:n.480del | |
| ENST00000682109.1:c.369del | ENSP00000508041.1:p.Leu124SerfsTer? | |
| ENST00000683226.1:n.199del | ||
| ENST00000683294.1:c.489del | ENSP00000508134.1:p.Leu164SerfsTer? | |
| ENST00000262018.8:c.489del MANE Select | ENSP00000262018.3:p.Leu164SerfsTer? | |
| ENST00000262018.7:c.489del | ENSP00000262018.3:p.Leu164SerfsTer? | |
| ENST00000344627.10:c.489del | ENSP00000345522.6:p.Leu164SerfsTer? | |
| ENST00000502555.5:c.*148del | ENSP00000422817.1:n.*148del | |
| ENST00000511303.5:c.210del | ENSP00000426104.1:p.Leu71SerfsTer? | |
| ENST00000512526.1:c.324del | ||
| ENST00000513821.5:c.489del | ENSP00000426571.1:p.Leu164SerfsTer? | |
| ENST00000513942.5:n.280del | ||
| ENST00000514934.1:c.*195del | ENSP00000423168.1:n.*195del | |
| NM_000023.2:c.489del , LRG_203t1:c.489del | NP_000014.1:p.Leu164SerfsTer? | |
| NM_001135697.1:c.489del | NP_001129169.1:p.Leu164SerfsTer? | |
| XM_011525120.1:c.489del | XP_011523422.1:p.Leu164SerfsTer? | |
| XM_011525121.1:c.489del | XP_011523423.1:p.Leu164SerfsTer? | |
| XM_011525122.1:c.489del | XP_011523424.1:p.Leu164SerfsTer? | |
| XM_011525123.1:c.489del | XP_011523425.1:p.Leu164SerfsTer? | |
| XM_011525124.1:c.183del | XP_011523426.1:p.Leu62SerfsTer? | |
| XR_934517.1:n.555del | ||
| NM_000023.3:c.489del | NP_000014.1:p.Leu164SerfsTer? | |
| NM_001135697.2:c.489del | NP_001129169.1:p.Leu164SerfsTer? | |
| NR_135553.1:n.545del | ||
| XM_011525120.2:c.651del | XP_011523422.2:p.Leu218SerfsTer? | |
| XM_011525121.2:c.651del | XP_011523423.2:p.Leu218SerfsTer? | |
| XM_011525122.2:c.651del | XP_011523424.2:p.Leu218SerfsTer? | |
| XM_011525123.2:c.651del | XP_011523425.2:p.Leu218SerfsTer? | |
| XM_011525124.2:c.183del | XP_011523426.1:p.Leu62SerfsTer? | |
| XM_024450873.1:c.183del | XP_024306641.1:p.Leu62SerfsTer? | |
| XR_002958056.1:n.1007del | ||
| NM_000023.4:c.489del MANE Select | NP_000014.1:p.Leu164SerfsTer? | |
| NM_001135697.3:c.489del | NP_001129169.1:p.Leu164SerfsTer? | |
| NR_135553.2:n.525del |