Canonical Allele Identifier: CA2634920867

Gene: ACSF3

Linked Data

• gnomAD v4: 16-89146069-G-GGGGGGGGGGGGGGGGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89146069_89146070insGGGGGGGGGGGGGGGGGC , CM000678.2:g.89146069_89146070insGGGGGGGGGGGGGGGGGC	GRCh38
NC_000016.9:g.89212477_89212478insGGGGGGGGGGGGGGGGGC , CM000678.1:g.89212477_89212478insGGGGGGGGGGGGGGGGGC	GRCh37
NC_000016.8:g.87739978_87739979insGGGGGGGGGGGGGGGGGC	NCBI36
NG_031961.1:g.57261_57262insGGGGGGGGGGGGGGGGGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000317447.9:c.1613+20_1613+21insGGGGGGGGGGGGGGGGGC	ENSP00000320646.4:n.1613+20_1613+21insGGGGGGGGGGGGGGGGGC
ENST00000614302.5:c.1613+20_1613+21insGGGGGGGGGGGGGGGGGC MANE Select	ENSP00000479130.1:n.1613+20_1613+21insGGGGGGGGGGGGGGGGGC
ENST00000649953.1:c.1823+20_1823+21insGGGGGGGGGGGGGGGGGC	ENSP00000497456.1:n.1823+20_1823+21insGGGGGGGGGGGGGGGGGC
ENST00000317447.8:c.1613+20_1613+21insGGGGGGGGGGGGGGGGGC	ENSP00000320646.4:n.1613+20_1613+21insGGGGGGGGGGGGGGGGGC
ENST00000378345.8:c.818+20_818+21insGGGGGGGGGGGGGGGGGC	ENSP00000367596.4:n.818+20_818+21insGGGGGGGGGGGGGGGGGC
ENST00000406948.7:c.1613+20_1613+21insGGGGGGGGGGGGGGGGGC	ENSP00000384627.3:n.1613+20_1613+21insGGGGGGGGGGGGGGGGGC
ENST00000535176.1:c.100+20_100+21insGGGGGGGGGGGGGGGGGC
ENST00000537116.5:n.739+20_739+21insGGGGGGGGGGGGGGGGGC
ENST00000537155.1:n.353+20_353+21insGGGGGGGGGGGGGGGGGC
ENST00000542688.5:c.*357+20_*357+21insGGGGGGGGGGGGGGGGGC	ENSP00000446281.1:n.*357+20_*357+21insGGGGGGGGGGGGGGGGGC
ENST00000614302.4:c.1613+20_1613+21insGGGGGGGGGGGGGGGGGC	ENSP00000479130.1:n.1613+20_1613+21insGGGGGGGGGGGGGGGGGC
NM_001127214.3:c.1613+20_1613+21insGGGGGGGGGGGGGGGGGC	NP_001120686.1:n.1613+20_1613+21insGGGGGGGGGGGGGGGGGC
NM_001243279.2:c.1613+20_1613+21insGGGGGGGGGGGGGGGGGC	NP_001230208.1:n.1613+20_1613+21insGGGGGGGGGGGGGGGGGC
NM_001284316.1:c.818+20_818+21insGGGGGGGGGGGGGGGGGC	NP_001271245.1:n.818+20_818+21insGGGGGGGGGGGGGGGGGC
NM_174917.4:c.1613+20_1613+21insGGGGGGGGGGGGGGGGGC	NP_777577.2:n.1613+20_1613+21insGGGGGGGGGGGGGGGGGC
NR_045667.2:n.739+20_739+21insGGGGGGGGGGGGGGGGGC
NR_104293.1:n.2047+20_2047+21insGGGGGGGGGGGGGGGGGC
XM_005256293.1:c.1613+20_1613+21insGGGGGGGGGGGGGGGGGC	XP_005256350.1:n.1613+20_1613+21insGGGGGGGGGGGGGGGGGC
XM_011522942.1:c.1613+20_1613+21insGGGGGGGGGGGGGGGGGC	XP_011521244.1:n.1613+20_1613+21insGGGGGGGGGGGGGGGGGC
XM_011522943.1:c.1613+20_1613+21insGGGGGGGGGGGGGGGGGC	XP_011521245.1:n.1613+20_1613+21insGGGGGGGGGGGGGGGGGC
XR_933239.1:n.2054+20_2054+21insGGGGGGGGGGGGGGGGGC
XR_933240.1:n.2051+20_2051+21insGGGGGGGGGGGGGGGGGC
XR_933241.1:n.1808+20_1808+21insGGGGGGGGGGGGGGGGGC
NR_147928.1:n.2091+20_2091+21insGGGGGGGGGGGGGGGGGC
NR_147929.1:n.1845+20_1845+21insGGGGGGGGGGGGGGGGGC
XM_005256293.2:c.1613+20_1613+21insGGGGGGGGGGGGGGGGGC	XP_005256350.1:n.1613+20_1613+21insGGGGGGGGGGGGGGGGGC
XM_017023018.1:c.1613+20_1613+21insGGGGGGGGGGGGGGGGGC	XP_016878507.1:n.1613+20_1613+21insGGGGGGGGGGGGGGGGGC
XM_017023019.1:c.1613+20_1613+21insGGGGGGGGGGGGGGGGGC	XP_016878508.1:n.1613+20_1613+21insGGGGGGGGGGGGGGGGGC
XM_017023020.2:c.-3492+20_-3492+21insGGGGGGGGGGGGGGGGGC	XP_016878509.1:n.-3492+20_-3492+21insGGGGGGGGGGGGGGGGGC
XM_017023022.1:c.746+20_746+21insGGGGGGGGGGGGGGGGGC	XP_016878511.1:n.746+20_746+21insGGGGGGGGGGGGGGGGGC
XM_024450186.1:c.818+20_818+21insGGGGGGGGGGGGGGGGGC	XP_024305954.1:n.818+20_818+21insGGGGGGGGGGGGGGGGGC
XM_024450187.1:c.818+20_818+21insGGGGGGGGGGGGGGGGGC	XP_024305955.1:n.818+20_818+21insGGGGGGGGGGGGGGGGGC
XR_001751864.2:n.1860+20_1860+21insGGGGGGGGGGGGGGGGGC
XR_001751865.1:n.1807+20_1807+21insGGGGGGGGGGGGGGGGGC
XR_933240.3:n.2050+20_2050+21insGGGGGGGGGGGGGGGGGC
NM_001127214.4:c.1613+20_1613+21insGGGGGGGGGGGGGGGGGC	NP_001120686.1:n.1613+20_1613+21insGGGGGGGGGGGGGGGGGC
NM_001243279.3:c.1613+20_1613+21insGGGGGGGGGGGGGGGGGC MANE Select	NP_001230208.1:n.1613+20_1613+21insGGGGGGGGGGGGGGGGGC
NM_001284316.2:c.818+20_818+21insGGGGGGGGGGGGGGGGGC	NP_001271245.1:n.818+20_818+21insGGGGGGGGGGGGGGGGGC
NM_174917.5:c.1613+20_1613+21insGGGGGGGGGGGGGGGGGC	NP_777577.2:n.1613+20_1613+21insGGGGGGGGGGGGGGGGGC
NR_104293.2:n.2004+20_2004+21insGGGGGGGGGGGGGGGGGC
NR_147928.2:n.2048+20_2048+21insGGGGGGGGGGGGGGGGGC
NR_147929.2:n.1802+20_1802+21insGGGGGGGGGGGGGGGGGC