Linked Data
ClinVar Variation Id:
159414
ClinVar RCV Id:
RCV003231313
dbSNP Id:
rs587784192
ExAC:
5:176719058 GT / G
gnomAD v2:
5-176719058-GT-G
gnomAD v3:
5-177292057-GT-G
gnomAD v4:
5-177292057-GT-G
MyVariant Identifiers:
chr5:g.176719062del (hg19)
chr5:g.176719059del (hg19)
chr5:g.177292061del (hg38)
chr5:g.177292058del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177292061del , CM000667.2:g.177292061del | GRCh38 |
| NC_000005.9:g.176719062del , CM000667.1:g.176719062del | GRCh37 |
| NC_000005.8:g.176651668del | NCBI36 |
| NG_009821.1:g.163983del , LRG_512:g.163983del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000508896.7:c.5493del | ENSP00000423372.3:p.Phe1831LeufsTer28 | |
| ENST00000347982.9:c.5493del | ENSP00000343209.5:p.Phe1831LeufsTer28 | |
| ENST00000354179.9:c.5493del | ENSP00000346111.5:p.Phe1831LeufsTer28 | |
| ENST00000503056.6:c.1008del | ENSP00000424024.2:p.Phe336LeufsTer28 | |
| ENST00000508029.6:c.1008del | ENSP00000425120.2:p.Phe336LeufsTer28 | |
| ENST00000685206.1:n.5949del | ||
| ENST00000686385.1:n.782del | ||
| ENST00000686993.1:c.5493del | ENSP00000510020.1:p.Phe1831LeufsTer28 | |
| ENST00000687453.1:c.6057del | ENSP00000508426.1:p.Phe2019LeufsTer28 | |
| ENST00000688613.1:n.5763del | ||
| ENST00000689345.1:c.5493del | ENSP00000509711.1:p.Phe1831LeufsTer28 | |
| ENST00000439151.7:c.6366del MANE Select | ENSP00000395929.2:p.Phe2122LeufsTer28 | |
| ENST00000347982.8:c.5559del | ENSP00000343209.4:p.Phe1853LeufsTer28 | |
| ENST00000354179.8:c.5559del | ENSP00000346111.4:p.Phe1853LeufsTer28 | |
| ENST00000439151.6:c.6366del | ENSP00000395929.2:p.Phe2122LeufsTer28 | |
| ENST00000513736.1:n.508del | ||
| NM_022455.4:c.6366del , LRG_512t1:c.6366del | NP_071900.2:p.Phe2122LeufsTer28 | |
| NM_172349.2:c.5559del | NP_758859.1:p.Phe1853LeufsTer28 | |
| XM_005265959.1:c.6366del | XP_005266016.1:p.Phe2122LeufsTer28 | |
| XM_005265960.1:c.5559del | XP_005266017.1:p.Phe1853LeufsTer28 | |
| XM_005265961.1:c.5559del | XP_005266018.1:p.Phe1853LeufsTer28 | |
| XM_005265962.3:c.1860del | XP_005266019.1:p.Phe620LeufsTer28 | |
| XM_011534610.1:c.6366del | XP_011532912.1:p.Phe2122LeufsTer28 | |
| XM_011534611.1:c.6366del | XP_011532913.1:p.Phe2122LeufsTer28 | |
| XM_011534612.1:c.5946del | XP_011532914.1:p.Phe1982LeufsTer28 | |
| XM_011534613.1:c.5310del | XP_011532915.1:p.Phe1770LeufsTer28 | |
| XM_011534617.1:c.2100del | XP_011532919.1:p.Phe700LeufsTer28 | |
| NM_001365684.1:c.5559del | NP_001352613.1:p.Phe1853LeufsTer28 | |
| XM_024446150.1:c.6366del | XP_024301918.1:p.Phe2122LeufsTer28 | |
| XM_024446151.1:c.6366del | XP_024301919.1:p.Phe2122LeufsTer28 | |
| XM_024446152.1:c.6366del | XP_024301920.1:p.Phe2122LeufsTer28 | |
| XM_024446153.1:c.6366del | XP_024301921.1:p.Phe2122LeufsTer28 | |
| XM_024446154.1:c.5946del | XP_024301922.1:p.Phe1982LeufsTer28 | |
| XM_024446155.1:c.5559del | XP_024301923.1:p.Phe1853LeufsTer28 | |
| XM_024446156.1:c.5559del | XP_024301924.1:p.Phe1853LeufsTer28 | |
| XM_024446158.1:c.5559del | XP_024301926.1:p.Phe1853LeufsTer28 | |
| XM_024446159.1:c.5310del | XP_024301927.1:p.Phe1770LeufsTer28 | |
| XM_024446162.1:c.2100del | XP_024301930.1:p.Phe700LeufsTer28 | |
| XM_024446163.1:c.1860del | XP_024301931.1:p.Phe620LeufsTer28 | |
| NM_022455.5:c.6366del MANE Select | NP_071900.2:p.Phe2122LeufsTer28 | |
| NM_172349.3:c.5559del | NP_758859.1:p.Phe1853LeufsTer28 |