Linked Data
ClinVar Variation Id:
183078
ClinVar RCV Id:
RCV000161944
RCV000491386
RCV000508295
RCV002228543
RCV003227683
RCV003323418
RCV003975229
dbSNP Id:
rs730882135
gnomAD v3:
5-112838742-GC-G
gnomAD v4:
5-112838742-GC-G
MyVariant Identifiers:
chr5:g.112174440del (hg19)
chr5:g.112174440delC (hg19)
chr5:g.112838743del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112838743del , CM000667.2:g.112838743del | GRCh38 |
| NC_000005.9:g.112174440del , CM000667.1:g.112174440del | GRCh37 |
| NC_000005.8:g.112202339del | NCBI36 |
| NG_008481.4:g.151223del , LRG_130:g.151223del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.2814del | ENSP00000484935.2:n.2814del | |
| ENST00000504915.3:c.3203del | ENSP00000473355.2:p.Ala1068GlufsTer6 | |
| ENST00000505350.2:c.*3155del | ENSP00000481752.1:n.*3155del | |
| ENST00000507379.6:c.3095del | ENSP00000423224.2:p.Ala1032GlufsTer6 | |
| ENST00000509732.6:c.3149del | ENSP00000426541.2:p.Ala1050GlufsTer6 | |
| ENST00000512211.7:c.3149del | ENSP00000423828.3:p.Ala1050GlufsTer6 | |
| ENST00000257430.9:c.3149del MANE Select | ENSP00000257430.4:p.Ala1050GlufsTer6 | |
| ENST00000257430.8:c.3149del | ENSP00000257430.4:p.Ala1050GlufsTer6 | |
| ENST00000502371.2:c.1502del | ||
| ENST00000507379.5:c.3095del | ENSP00000423224.1:p.Ala1032GlufsTer6 | |
| ENST00000508376.6:c.3149del | ENSP00000427089.2:p.Ala1050GlufsTer6 | |
| ENST00000508624.5:c.*2471del | ENSP00000424265.1:n.*2471del | |
| ENST00000512211.6:c.3149del | ENSP00000423828.2:p.Ala1050GlufsTer6 | |
| ENST00000520401.1:c.230+9771del | ||
| NM_000038.5:c.3149del | NP_000029.2:p.Ala1050GlufsTer6 | |
| NM_001127510.2:c.3149del | NP_001120982.1:p.Ala1050GlufsTer6 | |
| NM_001127511.2:c.3095del | NP_001120983.2:p.Ala1032GlufsTer6 | |
| NM_001354895.1:c.3149del | NP_001341824.1:p.Ala1050GlufsTer6 | |
| NM_001354896.1:c.3203del | NP_001341825.1:p.Ala1068GlufsTer6 | |
| NM_001354897.1:c.3179del | NP_001341826.1:p.Ala1060GlufsTer6 | |
| NM_001354898.1:c.3074del | NP_001341827.1:p.Ala1025GlufsTer6 | |
| NM_001354899.1:c.3065del | NP_001341828.1:p.Ala1022GlufsTer6 | |
| NM_001354900.1:c.3026del | NP_001341829.1:p.Ala1009GlufsTer6 | |
| NM_001354901.1:c.2972del | NP_001341830.1:p.Ala991GlufsTer6 | |
| NM_001354902.1:c.2876del | NP_001341831.1:p.Ala959GlufsTer6 | |
| NM_001354903.1:c.2846del | NP_001341832.1:p.Ala949GlufsTer6 | |
| NM_001354904.1:c.2771del | NP_001341833.1:p.Ala924GlufsTer6 | |
| NM_001354905.1:c.2669del | NP_001341834.1:p.Ala890GlufsTer6 | |
| NM_001354906.1:c.2300del | NP_001341835.1:p.Ala767GlufsTer6 | |
| NM_000038.6:c.3149del MANE Select | NP_000029.2:p.Ala1050GlufsTer6 | |
| NM_001127510.3:c.3149del | NP_001120982.1:p.Ala1050GlufsTer6 | |
| NM_001127511.3:c.3095del | NP_001120983.2:p.Ala1032GlufsTer6 | |
| NM_001354895.2:c.3149del | NP_001341824.1:p.Ala1050GlufsTer6 | |
| NM_001354896.2:c.3203del | NP_001341825.1:p.Ala1068GlufsTer6 | |
| NM_001354897.2:c.3179del | NP_001341826.1:p.Ala1060GlufsTer6 | |
| NM_001354898.2:c.3074del | NP_001341827.1:p.Ala1025GlufsTer6 | |
| NM_001354899.2:c.3065del | NP_001341828.1:p.Ala1022GlufsTer6 | |
| NM_001354900.2:c.3026del | NP_001341829.1:p.Ala1009GlufsTer6 | |
| NM_001354901.2:c.2972del | NP_001341830.1:p.Ala991GlufsTer6 | |
| NM_001354902.2:c.2876del | NP_001341831.1:p.Ala959GlufsTer6 | |
| NM_001354903.2:c.2846del | NP_001341832.1:p.Ala949GlufsTer6 | |
| NM_001354904.2:c.2771del | NP_001341833.1:p.Ala924GlufsTer6 | |
| NM_001354905.2:c.2669del | NP_001341834.1:p.Ala890GlufsTer6 | |
| NM_001354906.2:c.2300del | NP_001341835.1:p.Ala767GlufsTer6 |