Linked Data
dbSNP Id:
rs1567567655
gnomAD v2:
17-7127289-AC-A
gnomAD v4:
17-7223970-AC-A
MyVariant Identifiers:
chr17:g.7127290del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223972del , CM000679.2:g.7223972del | GRCh38 |
| NC_000017.10:g.7127291del , CM000679.1:g.7127291del | GRCh37 |
| NC_000017.9:g.7068015del | NCBI36 |
| NG_007975.1:g.9139del | |
| NG_008391.2:g.1080del | |
| NG_033038.1:g.15574del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1337del MANE Select | ENSP00000349297.5:p.Pro446LeufsTer3 | |
| ENST00000322910.9:c.*1292del | ENSP00000325395.5:n.*1292del | |
| ENST00000350303.9:c.1271del | ENSP00000344152.5:p.Pro424LeufsTer3 | |
| ENST00000356839.9:c.1337del | ENSP00000349297.5:p.Pro446LeufsTer3 | |
| ENST00000542255.6:c.195del | ||
| ENST00000543245.6:c.1406del | ENSP00000438689.2:p.Pro469LeufsTer3 | |
| ENST00000578711.1:n.468del | ||
| ENST00000579425.5:n.453del | ||
| ENST00000579546.1:c.174del | ||
| ENST00000579894.5:n.48del | ||
| ENST00000583074.5:n.56del | ||
| ENST00000583850.5:n.112del | ||
| ENST00000583858.5:c.366del | ||
| ENST00000585203.6:n.528del | ||
| NM_000018.3:c.1337del | NP_000009.1:p.Pro446LeufsTer3 | |
| NM_001033859.2:c.1271del | NP_001029031.1:p.Pro424LeufsTer3 | |
| NM_001270447.1:c.1406del | NP_001257376.1:p.Pro469LeufsTer3 | |
| NM_001270448.1:c.1109del | NP_001257377.1:p.Pro370LeufsTer3 | |
| XM_006721516.2:c.1337del | XP_006721579.2:p.Pro446LeufsTer3 | |
| XM_011523829.1:c.1337del | XP_011522131.1:p.Pro446LeufsTer3 | |
| XM_011523830.1:c.1337del | XP_011522132.1:p.Pro446LeufsTer3 | |
| XR_934021.1:n.1444del | ||
| XR_934022.1:n.1444del | ||
| XR_934023.1:n.1444del | ||
| XM_006721516.3:c.1337del | XP_006721579.2:p.Pro446LeufsTer3 | |
| XM_011523829.2:c.1337del | XP_011522131.1:p.Pro446LeufsTer3 | |
| XM_011523830.2:c.1337del | XP_011522132.1:p.Pro446LeufsTer3 | |
| XM_024450741.1:c.1337del | XP_024306509.1:p.Pro446LeufsTer3 | |
| XR_934021.2:n.1396del | ||
| XR_934022.2:n.1396del | ||
| XR_934023.2:n.1396del | ||
| NM_000018.4:c.1337del MANE Select | NP_000009.1:p.Pro446LeufsTer3 | |
| NM_001033859.3:c.1271del | NP_001029031.1:p.Pro424LeufsTer3 | |
| NM_001270447.2:c.1406del | NP_001257376.1:p.Pro469LeufsTer3 | |
| NM_001270448.2:c.1109del | NP_001257377.1:p.Pro370LeufsTer3 |