Linked Data
ClinVar Variation Id:
839947
ClinVar RCV Id:
RCV001041821
dbSNP Id:
rs1214222702
gnomAD v2:
17-7127536-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224219del , CM000679.2:g.7224219del | GRCh38 |
| NC_000017.10:g.7127538del , CM000679.1:g.7127538del | GRCh37 |
| NC_000017.9:g.7068262del | NCBI36 |
| NG_007975.1:g.9386del | |
| NG_008391.2:g.833del | |
| NG_033038.1:g.15327del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1508del MANE Select | ENSP00000349297.5:p.Gly503GlufsTer7 | |
| ENST00000322910.9:c.*1463del | ENSP00000325395.5:n.*1463del | |
| ENST00000350303.9:c.1442del | ENSP00000344152.5:p.Gly481GlufsTer7 | |
| ENST00000356839.9:c.1508del | ENSP00000349297.5:p.Gly503GlufsTer7 | |
| ENST00000542255.6:c.366del | ||
| ENST00000543245.6:c.1577del | ENSP00000438689.2:p.Gly526GlufsTer7 | |
| ENST00000578319.5:n.3del | ||
| ENST00000578711.1:n.715del | ||
| ENST00000578809.5:n.3del | ||
| ENST00000579391.1:n.116del | ||
| ENST00000579425.5:n.624del | ||
| ENST00000579546.1:c.272-102del | ||
| ENST00000579894.5:n.295del | ||
| ENST00000583074.5:n.154-102del | ||
| ENST00000583850.5:n.283del | ||
| ENST00000583858.5:c.464-102del | ||
| ENST00000585203.6:n.699del | ||
| NM_000018.3:c.1508del | NP_000009.1:p.Gly503GlufsTer7 | |
| NM_001033859.2:c.1442del | NP_001029031.1:p.Gly481GlufsTer7 | |
| NM_001270447.1:c.1577del | NP_001257376.1:p.Gly526GlufsTer7 | |
| NM_001270448.1:c.1280del | NP_001257377.1:p.Gly427GlufsTer7 | |
| XM_006721516.2:c.1508del | XP_006721579.2:p.Gly503GlufsTer7 | |
| XM_011523829.1:c.1435-102del | XP_011522131.1:n.1435-102del | |
| XM_011523830.1:c.1435-102del | XP_011522132.1:n.1435-102del | |
| XR_934021.1:n.1615del | ||
| XR_934022.1:n.1542-102del | ||
| XR_934023.1:n.1542-102del | ||
| XM_006721516.3:c.1508del | XP_006721579.2:p.Gly503GlufsTer7 | |
| XM_011523829.2:c.1435-102del | XP_011522131.1:n.1435-102del | |
| XM_011523830.2:c.1435-102del | XP_011522132.1:n.1435-102del | |
| XM_024450741.1:c.1435-102del | XP_024306509.1:n.1435-102del | |
| XR_934021.2:n.1567del | ||
| XR_934022.2:n.1494-102del | ||
| XR_934023.2:n.1494-102del | ||
| NM_000018.4:c.1508del MANE Select | NP_000009.1:p.Gly503GlufsTer7 | |
| NM_001033859.3:c.1442del | NP_001029031.1:p.Gly481GlufsTer7 | |
| NM_001270447.2:c.1577del | NP_001257376.1:p.Gly526GlufsTer7 | |
| NM_001270448.2:c.1280del | NP_001257377.1:p.Gly427GlufsTer7 |