Canonical Allele Identifier: CA16044233
Gene: ACOT1 HGNC NCBI
HEATR4 HGNC NCBI

Linked Data

ClinVar Variation Id: 375394
ClinVar RCV Id: RCV000416479
dbSNP Id: rs1057519450

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?