Linked Data
ClinVar Variation Id:
257095
dbSNP Id:
rs11498192
gnomAD v2:
6-45390486-AGGCGGCGGCGGCGGCTGC-A
gnomAD v3:
6-45422749-AGGCGGCGGCGGCGGCTGC-A
gnomAD v4:
6-45422749-AGGCGGCGGCGGCGGCTGC-A
MyVariant Identifiers:
chr6:g.45390514_45390531del (hg19)
chr6:g.45390505_45390522del (hg19)
chr6:g.45390496_45390513del (hg19)
chr6:g.45390490_45390507del (hg19)
chr6:g.45390487_45390504del (hg19)
chr6:g.45422777_45422794del (hg38)
chr6:g.45422768_45422785del (hg38)
chr6:g.45422753_45422770del (hg38)
chr6:g.45422751_45422768del (hg38)
chr6:g.45422750_45422767del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.45422777_45422794del , CM000668.2:g.45422777_45422794del | GRCh38 |
| NC_000006.11:g.45390514_45390531del , CM000668.1:g.45390514_45390531del | GRCh37 |
| NC_000006.10:g.45498492_45498509del | NCBI36 |
| NG_008020.1:g.99461_99478del | |
| NG_008020.2:g.99461_99478del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646519.1:c.201_218del | ENSP00000496517.1:p.Ala68_Ala73del | |
| ENST00000647337.2:c.243_260del MANE Select | ENSP00000495497.1:p.Ala82_Ala87del | |
| ENST00000359524.7:c.201_218del | ENSP00000352514.5:p.Ala68_Ala73del | |
| ENST00000371432.7:c.243_260del | ENSP00000360486.4:p.Ala82_Ala87del | |
| ENST00000371436.10:c.243_260del | ENSP00000360491.6:p.Ala82_Ala87del | |
| ENST00000371438.5:c.243_260del | ENSP00000360493.1:p.Ala82_Ala87del | |
| ENST00000465038.6:c.243_260del | ENSP00000420707.2:p.Ala82_Ala87del | |
| ENST00000478660.6:c.201_218del | ENSP00000460188.1:p.Ala68_Ala73del | |
| ENST00000483377.5:c.59-9086_59-9069del | ENSP00000461357.1:n.59-9086_59-9069del | |
| ENST00000576263.5:c.243_260del | ENSP00000458178.1:p.Ala82_Ala87del | |
| ENST00000625924.1:c.201_218del | ENSP00000485863.1:p.Ala68_Ala73del | |
| NM_001015051.3:c.243_260del | NP_001015051.3:p.Ala82_Ala87del | |
| NM_001024630.3:c.243_260del | NP_001019801.3:p.Ala82_Ala87del | |
| NM_001278478.1:c.201_218del | NP_001265407.1:p.Ala68_Ala73del | |
| XM_006715232.1:c.201_218del | XP_006715295.1:p.Ala68_Ala73del | |
| XM_011514960.1:c.447_464del | XP_011513262.1:p.Ala150_Ala155del | |
| XM_011514961.1:c.447_464del | XP_011513263.1:p.Ala150_Ala155del | |
| XM_011514962.1:c.447_464del | XP_011513264.1:p.Ala150_Ala155del | |
| XM_011514963.1:c.447_464del | XP_011513265.1:p.Ala150_Ala155del | |
| XM_011514964.1:c.447_464del | XP_011513266.1:p.Ala150_Ala155del | |
| XM_011514965.1:c.447_464del | XP_011513267.1:p.Ala150_Ala155del | |
| XM_011514967.1:c.447_464del | XP_011513269.1:p.Ala150_Ala155del | |
| XM_011514968.1:c.447_464del | XP_011513270.1:p.Ala150_Ala155del | |
| XR_926323.1:n.959_976del | ||
| NM_001024630.4:c.243_260del MANE Select | NP_001019801.3:p.Ala82_Ala87del | |
| NM_001278478.2:c.201_218del | NP_001265407.1:p.Ala68_Ala73del | |
| NM_001369405.1:c.201_218del | NP_001356334.1:p.Ala68_Ala73del | |
| NM_001015051.4:c.243_260del | NP_001015051.3:p.Ala82_Ala87del |