Linked Data
ClinVar Variation Id:
557638
ClinVar RCV Id:
RCV000673805
dbSNP Id:
rs1555527464
gnomAD v4:
17-7220013-TG-T
MyVariant Identifiers:
chr17:g.7220017del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220017del , CM000679.2:g.7220017del | GRCh38 |
| NC_000017.10:g.7123336del , CM000679.1:g.7123336del | GRCh37 |
| NC_000017.9:g.7064060del | NCBI36 |
| NG_007975.1:g.5184del | |
| NG_008391.2:g.5037del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.33del (ACADVL) MANE Select | ENSP00000349297.5:p.Arg12GlyfsTer4 | |
| ENST00000322910.9:c.33del (ACADVL) | ENSP00000325395.5:p.Arg12GlyfsTer4 | |
| ENST00000350303.9:c.33del (ACADVL) | ENSP00000344152.5:p.Arg12GlyfsTer4 | |
| ENST00000356839.9:c.33del (ACADVL) | ENSP00000349297.5:p.Arg12GlyfsTer4 | |
| ENST00000543245.6:c.132-105del (ACADVL) | ENSP00000438689.2:n.132-105del | |
| ENST00000577191.5:n.110del (ACADVL) | ||
| ENST00000577857.5:n.123del (ACADVL) | ||
| ENST00000578269.5:n.140del (ACADVL) | ||
| ENST00000578421.1:n.92del (ACADVL) | ||
| ENST00000579286.5:n.140del (ACADVL) | ||
| ENST00000579886.2:c.33del (ACADVL) | ENSP00000463246.1:p.Arg12GlyfsTer4 | |
| ENST00000580263.5:n.123del (ACADVL) | ||
| ENST00000581562.5:n.80del (ACADVL) | ||
| ENST00000582056.5:n.123del (ACADVL) | ||
| ENST00000582356.5:n.158del (ACADVL) | ||
| ENST00000583312.5:c.33del (ACADVL) | ENSP00000467920.1:p.Arg12GlyfsTer4 | |
| ENST00000584103.5:c.33del (ACADVL) | ENSP00000465353.1:p.Arg12GlyfsTer4 | |
| NM_000018.3:c.33del (ACADVL) | NP_000009.1:p.Arg12GlyfsTer4 | |
| NM_001033859.2:c.33del (ACADVL) | NP_001029031.1:p.Arg12GlyfsTer4 | |
| NM_001270447.1:c.132-105del (ACADVL) | NP_001257376.1:n.132-105del | |
| NM_001270448.1:c.-271del (ACADVL) | NP_001257377.1:n.-271del | |
| NM_001365.3:c.-1165del (DLG4) | NP_001356.1:n.-1165del | |
| XM_006721516.2:c.33del (ACADVL) | XP_006721579.2:p.Arg12GlyfsTer4 | |
| XM_011523829.1:c.33del (ACADVL) | XP_011522131.1:p.Arg12GlyfsTer4 | |
| XM_011523830.1:c.33del (ACADVL) | XP_011522132.1:p.Arg12GlyfsTer4 | |
| XR_934021.1:n.140del (ACADVL) | ||
| XR_934022.1:n.140del (ACADVL) | ||
| XR_934023.1:n.140del (ACADVL) | ||
| NM_001321074.1:c.-1165del (DLG4) | NP_001308003.1:n.-1165del | |
| NM_001365.4:c.-1165del (DLG4) | NP_001356.1:n.-1165del | |
| NR_135527.1:n.37del (DLG4) | ||
| XM_006721516.3:c.33del (ACADVL) | XP_006721579.2:p.Arg12GlyfsTer4 | |
| XM_011523829.2:c.33del (ACADVL) | XP_011522131.1:p.Arg12GlyfsTer4 | |
| XM_011523830.2:c.33del (ACADVL) | XP_011522132.1:p.Arg12GlyfsTer4 | |
| XM_024450741.1:c.33del (ACADVL) | XP_024306509.1:p.Arg12GlyfsTer4 | |
| XR_934021.2:n.92del (ACADVL) | ||
| XR_934022.2:n.92del (ACADVL) | ||
| XR_934023.2:n.92del (ACADVL) | ||
| NM_000018.4:c.33del (ACADVL) MANE Select | NP_000009.1:p.Arg12GlyfsTer4 | |
| NM_001033859.3:c.33del (ACADVL) | NP_001029031.1:p.Arg12GlyfsTer4 | |
| NM_001270447.2:c.132-105del (ACADVL) | NP_001257376.1:n.132-105del | |
| NM_001270448.2:c.-271del (ACADVL) | NP_001257377.1:n.-271del |