Canonical Allele Identifier: CA919767572

Gene: ACSF3

Linked Data

• dbSNP Id: rs1567747775
• gnomAD v4: 16-89146010-G-GCC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89146010_89146011insCC , CM000678.2:g.89146010_89146011insCC	GRCh38
NC_000016.9:g.89212418_89212419insCC , CM000678.1:g.89212418_89212419insCC	GRCh37
NC_000016.8:g.87739919_87739920insCC	NCBI36
NG_031961.1:g.57202_57203insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1574_1575insCC	ENSP00000320646.4:p.Ser527ThrfsTer?
ENST00000614302.5:c.1574_1575insCC MANE Select	ENSP00000479130.1:p.Ser527ThrfsTer?
ENST00000649953.1:c.1784_1785insCC	ENSP00000497456.1:p.Ser597ThrfsTer?
ENST00000317447.8:c.1574_1575insCC	ENSP00000320646.4:p.Ser527ThrfsTer?
ENST00000378345.8:c.779_780insCC	ENSP00000367596.4:p.Ser262ThrfsTer?
ENST00000406948.7:c.1574_1575insCC	ENSP00000384627.3:p.Ser527ThrfsTer?
ENST00000535176.1:c.61_62insCC
ENST00000537116.5:n.700_701insCC
ENST00000537155.1:n.314_315insCC
ENST00000542688.5:c.*318_*319insCC	ENSP00000446281.1:n.*318_*319insCC
ENST00000562204.1:n.547_548insCC
ENST00000614302.4:c.1574_1575insCC	ENSP00000479130.1:p.Ser527ThrfsTer?
NM_001127214.3:c.1574_1575insCC	NP_001120686.1:p.Ser527ThrfsTer?
NM_001243279.2:c.1574_1575insCC	NP_001230208.1:p.Ser527ThrfsTer?
NM_001284316.1:c.779_780insCC	NP_001271245.1:p.Ser262ThrfsTer?
NM_174917.4:c.1574_1575insCC	NP_777577.2:p.Ser527ThrfsTer?
NR_045667.2:n.700_701insCC
NR_104293.1:n.2008_2009insCC
XM_005256293.1:c.1574_1575insCC	XP_005256350.1:p.Ser527ThrfsTer14
XM_011522942.1:c.1574_1575insCC	XP_011521244.1:p.Ser527ThrfsTer14
XM_011522943.1:c.1574_1575insCC	XP_011521245.1:p.Ser527ThrfsTer14
XR_933239.1:n.2015_2016insCC
XR_933240.1:n.2012_2013insCC
XR_933241.1:n.1769_1770insCC
NR_147928.1:n.2052_2053insCC
NR_147929.1:n.1806_1807insCC
XM_005256293.2:c.1574_1575insCC	XP_005256350.1:p.Ser527ThrfsTer14
XM_017023018.1:c.1574_1575insCC	XP_016878507.1:p.Ser527ThrfsTer14
XM_017023019.1:c.1574_1575insCC	XP_016878508.1:p.Ser527ThrfsTer?
XM_017023020.2:c.-3531_-3530insCC	XP_016878509.1:n.-3531_-3530insCC
XM_017023022.1:c.707_708insCC	XP_016878511.1:p.Ser238ThrfsTer14
XM_024450186.1:c.779_780insCC	XP_024305954.1:p.Ser262ThrfsTer14
XM_024450187.1:c.779_780insCC	XP_024305955.1:p.Ser262ThrfsTer?
XR_001751864.2:n.1821_1822insCC
XR_001751865.1:n.1768_1769insCC
XR_933240.3:n.2011_2012insCC
NM_001127214.4:c.1574_1575insCC	NP_001120686.1:p.Ser527ThrfsTer?
NM_001243279.3:c.1574_1575insCC MANE Select	NP_001230208.1:p.Ser527ThrfsTer?
NM_001284316.2:c.779_780insCC	NP_001271245.1:p.Ser262ThrfsTer?
NM_174917.5:c.1574_1575insCC	NP_777577.2:p.Ser527ThrfsTer?
NR_104293.2:n.1965_1966insCC
NR_147928.2:n.2009_2010insCC
NR_147929.2:n.1763_1764insCC