Canonical Allele Identifier: CA1139664883

Gene: ACSF3

Linked Data

• ClinVar Variation Id: 970716
• ClinVar RCV Id: RCV001246335
• dbSNP Id: rs1914445437

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154105delinsAC , CM000678.2:g.89154105delinsAC	GRCh38
NC_000016.9:g.89220513delinsAC , CM000678.1:g.89220513delinsAC	GRCh37
NC_000016.8:g.87748014delinsAC	NCBI36
NG_031961.1:g.65297delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1629delinsAC	ENSP00000320646.4:p.Tyr544LeufsTer22
ENST00000614302.5:c.1629delinsAC MANE Select	ENSP00000479130.1:p.Tyr544LeufsTer22
ENST00000649953.1:c.1839delinsAC	ENSP00000497456.1:p.Tyr614LeufsTer22
ENST00000317447.8:c.1629delinsAC	ENSP00000320646.4:p.Tyr544LeufsTer22
ENST00000378345.8:c.834delinsAC	ENSP00000367596.4:p.Tyr279LeufsTer22
ENST00000393145.5:n.6539delinsAC
ENST00000406948.7:c.1629delinsAC	ENSP00000384627.3:p.Tyr544LeufsTer22
ENST00000537116.5:n.755delinsAC
ENST00000537155.1:n.369delinsAC
ENST00000542688.5:c.*373delinsAC	ENSP00000446281.1:n.*373delinsAC
ENST00000614302.4:c.1629delinsAC	ENSP00000479130.1:p.Tyr544LeufsTer22
NM_001127214.3:c.1629delinsAC	NP_001120686.1:p.Tyr544LeufsTer22
NM_001243279.2:c.1629delinsAC	NP_001230208.1:p.Tyr544LeufsTer22
NM_001284316.1:c.834delinsAC	NP_001271245.1:p.Tyr279LeufsTer22
NM_174917.4:c.1629delinsAC	NP_777577.2:p.Tyr544LeufsTer22
NR_045667.2:n.755delinsAC
NR_104293.1:n.2063delinsAC
XR_933239.1:n.2070delinsAC
XR_933240.1:n.2067delinsAC
XR_933241.1:n.1824delinsAC
NR_147928.1:n.2107delinsAC
NR_147929.1:n.1861delinsAC
XM_017023020.2:c.-3476delinsAC	XP_016878509.1:n.-3476delinsAC
XM_024450187.1:c.834delinsAC	XP_024305955.1:p.Tyr279LeufsTer22
XR_001751864.2:n.1876delinsAC
XR_933240.3:n.2066delinsAC
NM_001127214.4:c.1629delinsAC	NP_001120686.1:p.Tyr544LeufsTer22
NM_001243279.3:c.1629delinsAC MANE Select	NP_001230208.1:p.Tyr544LeufsTer22
NM_001284316.2:c.834delinsAC	NP_001271245.1:p.Tyr279LeufsTer22
NM_174917.5:c.1629delinsAC	NP_777577.2:p.Tyr544LeufsTer22
NR_104293.2:n.2020delinsAC
NR_147928.2:n.2064delinsAC
NR_147929.2:n.1818delinsAC