Canonical Allele Identifier: CA1139664879

Gene: ACSF3

Linked Data

• ClinVar Variation Id: 957374
• ClinVar RCV Id: RCV001230340
• dbSNP Id: rs1912702795

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145307_89145308del , CM000678.2:g.89145307_89145308del	GRCh38
NC_000016.9:g.89211715_89211716del , CM000678.1:g.89211715_89211716del	GRCh37
NC_000016.8:g.87739216_87739217del	NCBI36
NG_031961.1:g.56499_56500del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1407_1408del	ENSP00000320646.4:p.Gly470ProfsTer?
ENST00000614302.5:c.1407_1408del MANE Select	ENSP00000479130.1:p.Gly470ProfsTer?
ENST00000649953.1:c.1617_1618del	ENSP00000497456.1:p.Gly540ProfsTer?
ENST00000317447.8:c.1407_1408del	ENSP00000320646.4:p.Gly470ProfsTer?
ENST00000378345.8:c.612_613del	ENSP00000367596.4:p.Gly205ProfsTer?
ENST00000406948.7:c.1407_1408del	ENSP00000384627.3:p.Gly470ProfsTer?
ENST00000537116.5:n.533_534del
ENST00000537155.1:n.147_148del
ENST00000542688.5:c.*151_*152del	ENSP00000446281.1:n.*151_*152del
ENST00000544543.5:c.612_613del	ENSP00000442781.1:p.Gly205ProfsTer?
ENST00000562204.1:n.380_381del
ENST00000614302.4:c.1407_1408del	ENSP00000479130.1:p.Gly470ProfsTer?
NM_001127214.3:c.1407_1408del	NP_001120686.1:p.Gly470ProfsTer?
NM_001243279.2:c.1407_1408del	NP_001230208.1:p.Gly470ProfsTer?
NM_001284316.1:c.612_613del	NP_001271245.1:p.Gly205ProfsTer?
NM_174917.4:c.1407_1408del	NP_777577.2:p.Gly470ProfsTer?
NR_045667.2:n.533_534del
NR_104293.1:n.1841_1842del
XM_005256293.1:c.1407_1408del	XP_005256350.1:p.Gly470ProfsTer?
XM_011522942.1:c.1407_1408del	XP_011521244.1:p.Gly470ProfsTer?
XM_011522943.1:c.1407_1408del	XP_011521245.1:p.Gly470ProfsTer?
XR_933239.1:n.1848_1849del
XR_933240.1:n.1845_1846del
XR_933241.1:n.1602_1603del
NR_147928.1:n.1885_1886del
NR_147929.1:n.1639_1640del
XM_005256293.2:c.1407_1408del	XP_005256350.1:p.Gly470ProfsTer?
XM_017023018.1:c.1407_1408del	XP_016878507.1:p.Gly470ProfsTer?
XM_017023019.1:c.1407_1408del	XP_016878508.1:p.Gly470ProfsTer?
XM_017023020.2:c.-3698_-3697del	XP_016878509.1:n.-3698_-3697del
XM_017023022.1:c.540_541del	XP_016878511.1:p.Gly181ProfsTer?
XM_024450186.1:c.612_613del	XP_024305954.1:p.Gly205ProfsTer?
XM_024450187.1:c.612_613del	XP_024305955.1:p.Gly205ProfsTer?
XR_001751864.2:n.1654_1655del
XR_001751865.1:n.1601_1602del
XR_933240.3:n.1844_1845del
NM_001127214.4:c.1407_1408del	NP_001120686.1:p.Gly470ProfsTer?
NM_001243279.3:c.1407_1408del MANE Select	NP_001230208.1:p.Gly470ProfsTer?
NM_001284316.2:c.612_613del	NP_001271245.1:p.Gly205ProfsTer?
NM_174917.5:c.1407_1408del	NP_777577.2:p.Gly470ProfsTer?
NR_104293.2:n.1798_1799del
NR_147928.2:n.1842_1843del
NR_147929.2:n.1596_1597del