Canonical Allele Identifier: CA2499223764

Gene: ACSF3

Linked Data

• ClinVar Variation Id: 1083859
• ClinVar RCV Id: RCV001400712

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89100686_89100687delinsCA , CM000678.2:g.89100686_89100687delinsCA	GRCh38
NC_000016.9:g.89167094_89167095delinsCA , CM000678.1:g.89167094_89167095delinsCA	GRCh37
NC_000016.8:g.87694595_87694596delinsCA	NCBI36
NG_031961.1:g.11878_11879delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.5_6delinsCA	ENSP00000320646.4:p.Leu2Pro
ENST00000614302.5:c.5_6delinsCA MANE Select	ENSP00000479130.1:p.Leu2Pro
ENST00000649953.1:c.5_6delinsCA	ENSP00000497456.1:p.Leu2Pro
ENST00000317447.8:c.5_6delinsCA	ENSP00000320646.4:p.Leu2Pro
ENST00000378345.8:c.-129-1918_-129-1917delinsCA	ENSP00000367596.4:n.-129-1918_-129-1917delinsCA
ENST00000406948.7:c.5_6delinsCA	ENSP00000384627.3:p.Leu2Pro
ENST00000537290.5:c.5_6delinsCA	ENSP00000440734.1:p.Leu2Pro
ENST00000537895.5:c.-129-1918_-129-1917delinsCA	ENSP00000439201.1:n.-129-1918_-129-1917delinsCA
ENST00000540697.5:c.-129-1918_-129-1917delinsCA	ENSP00000445397.1:n.-129-1918_-129-1917delinsCA
ENST00000541755.2:c.5_6delinsCA	ENSP00000457301.1:p.Leu2Pro
ENST00000542688.5:c.5_6delinsCA	ENSP00000446281.1:p.Leu2Pro
ENST00000614302.4:c.5_6delinsCA	ENSP00000479130.1:p.Leu2Pro
NM_001127214.3:c.5_6delinsCA	NP_001120686.1:p.Leu2Pro
NM_001243279.2:c.5_6delinsCA	NP_001230208.1:p.Leu2Pro
NM_001284316.1:c.-129-1918_-129-1917delinsCA	NP_001271245.1:n.-129-1918_-129-1917delinsCA
NM_174917.4:c.5_6delinsCA	NP_777577.2:p.Leu2Pro
NR_104293.1:n.386_387delinsCA
XM_005256293.1:c.5_6delinsCA	XP_005256350.1:p.Leu2Pro
XM_011522942.1:c.5_6delinsCA	XP_011521244.1:p.Leu2Pro
XM_011522943.1:c.5_6delinsCA	XP_011521245.1:p.Leu2Pro
XM_011522944.1:c.5_6delinsCA	XP_011521246.1:p.Leu2Pro
XR_933238.1:n.349_350delinsCA
XR_933239.1:n.349_350delinsCA
XR_933240.1:n.349_350delinsCA
XR_933241.1:n.349_350delinsCA
NR_147928.1:n.386_387delinsCA
NR_147929.1:n.386_387delinsCA
XM_005256293.2:c.5_6delinsCA	XP_005256350.1:p.Leu2Pro
XM_017023018.1:c.5_6delinsCA	XP_016878507.1:p.Leu2Pro
XM_017023019.1:c.5_6delinsCA	XP_016878508.1:p.Leu2Pro
XM_017023021.1:c.5_6delinsCA	XP_016878510.1:p.Leu2Pro
XM_024450186.1:c.-129-1918_-129-1917delinsCA	XP_024305954.1:n.-129-1918_-129-1917delinsCA
XM_024450187.1:c.-129-1918_-129-1917delinsCA	XP_024305955.1:n.-129-1918_-129-1917delinsCA
XR_001751864.2:n.348_349delinsCA
XR_001751865.1:n.348_349delinsCA
XR_933238.2:n.348_349delinsCA
XR_933240.3:n.348_349delinsCA
NM_001127214.4:c.5_6delinsCA	NP_001120686.1:p.Leu2Pro
NM_001243279.3:c.5_6delinsCA MANE Select	NP_001230208.1:p.Leu2Pro
NM_001284316.2:c.-129-1918_-129-1917delinsCA	NP_001271245.1:n.-129-1918_-129-1917delinsCA
NM_174917.5:c.5_6delinsCA	NP_777577.2:p.Leu2Pro
NR_104293.2:n.343_344delinsCA
NR_147928.2:n.343_344delinsCA
NR_147929.2:n.343_344delinsCA