Linked Data
ClinVar Variation Id:
375394
ClinVar RCV Id:
RCV000416479
dbSNP Id:
rs1057519450
gnomAD v4:
14-73537825-GGCGCGAGCCGGTGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73537831_73537844del , CM000676.2:g.73537831_73537844del | GRCh38 |
| NC_000014.8:g.74004535_74004548del , CM000676.1:g.74004535_74004548del | GRCh37 |
| NC_000014.7:g.73074288_73074301del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311148.9:c.410_423del (ACOT1) MANE Select | ENSP00000311224.4:p.Glu137GlyfsTer? | |
| ENST00000553558.6:c.-151-7595_-151-7582del (HEATR4) MANE Select | ENSP00000450444.2:n.-151-7595_-151-7582del | |
| ENST00000311148.8:c.410_423del (ACOT1) | ENSP00000311224.4:p.Glu137GlyfsTer? | |
| ENST00000334988.2:c.-72-14615_-72-14602del (HEATR4) | ENSP00000335447.2:n.-72-14615_-72-14602del | |
| ENST00000553558.5:c.-151-7595_-151-7582del (HEATR4) | ENSP00000450444.1:n.-151-7595_-151-7582del | |
| ENST00000557556.1:c.410_423del (ACOT1) | ENSP00000451764.1:p.Glu137GlyfsTer? | |
| ENST00000563329.1:c.-320-7595_-320-7582del (HEATR4) | ENSP00000456792.1:n.-320-7595_-320-7582del | |
| NM_001037161.1:c.410_423del (ACOT1) | NP_001032238.1:p.Glu137GlyfsTer? | |
| NM_001220484.1:c.-151-7595_-151-7582del (HEATR4) MANE Select | NP_001207413.1:n.-151-7595_-151-7582del | |
| NM_203309.2:c.-72-14615_-72-14602del (HEATR4) | NP_976054.2:n.-72-14615_-72-14602del | |
| XM_011537075.1:c.89-3662_89-3649del (ACOT1) | XP_011535377.1:n.89-3662_89-3649del | |
| XM_017021590.1:c.89-3662_89-3649del (ACOT1) | XP_016877079.1:n.89-3662_89-3649del | |
| XM_017021591.1:c.-29-3662_-29-3649del (ACOT1) | XP_016877080.1:n.-29-3662_-29-3649del | |
| XM_017021592.1:c.-29-3662_-29-3649del (ACOT1) | XP_016877081.1:n.-29-3662_-29-3649del | |
| NM_001037161.2:c.410_423del (ACOT1) MANE Select | NP_001032238.1:p.Glu137GlyfsTer? |