Canonical Allele Identifier: CA2634920771

Gene: ACSF3

Linked Data

• gnomAD v4: 16-89146045-GCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89146046_89146048del , CM000678.2:g.89146046_89146048del	GRCh38
NC_000016.9:g.89212454_89212456del , CM000678.1:g.89212454_89212456del	GRCh37
NC_000016.8:g.87739955_87739957del	NCBI36
NG_031961.1:g.57238_57240del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1610_1612del	ENSP00000320646.4:p.Ala537_Arg538delinsGly
ENST00000614302.5:c.1610_1612del MANE Select	ENSP00000479130.1:p.Ala537_Arg538delinsGly
ENST00000649953.1:c.1820_1822del	ENSP00000497456.1:p.Ala607_Arg608delinsGly
ENST00000317447.8:c.1610_1612del	ENSP00000320646.4:p.Ala537_Arg538delinsGly
ENST00000378345.8:c.815_817del	ENSP00000367596.4:p.Ala272_Arg273delinsGly
ENST00000406948.7:c.1610_1612del	ENSP00000384627.3:p.Ala537_Arg538delinsGly
ENST00000535176.1:c.97_99del
ENST00000537116.5:n.736_738del
ENST00000537155.1:n.350_352del
ENST00000542688.5:c.*354_*356del	ENSP00000446281.1:n.*354_*356del
ENST00000614302.4:c.1610_1612del	ENSP00000479130.1:p.Ala537_Arg538delinsGly
NM_001127214.3:c.1610_1612del	NP_001120686.1:p.Ala537_Arg538delinsGly
NM_001243279.2:c.1610_1612del	NP_001230208.1:p.Ala537_Arg538delinsGly
NM_001284316.1:c.815_817del	NP_001271245.1:p.Ala272_Arg273delinsGly
NM_174917.4:c.1610_1612del	NP_777577.2:p.Ala537_Arg538delinsGly
NR_045667.2:n.736_738del
NR_104293.1:n.2044_2046del
XM_005256293.1:c.1610_1612del	XP_005256350.1:p.Ala537_Arg538delinsGly
XM_011522942.1:c.1610_1612del	XP_011521244.1:p.Ala537_Arg538delinsGly
XM_011522943.1:c.1610_1612del	XP_011521245.1:p.Ala537_Arg538delinsGly
XR_933239.1:n.2051_2053del
XR_933240.1:n.2048_2050del
XR_933241.1:n.1805_1807del
NR_147928.1:n.2088_2090del
NR_147929.1:n.1842_1844del
XM_005256293.2:c.1610_1612del	XP_005256350.1:p.Ala537_Arg538delinsGly
XM_017023018.1:c.1610_1612del	XP_016878507.1:p.Ala537_Arg538delinsGly
XM_017023019.1:c.1610_1612del	XP_016878508.1:p.Ala537_Arg538delinsGly
XM_017023020.2:c.-3495_-3493del	XP_016878509.1:n.-3495_-3493del
XM_017023022.1:c.743_745del	XP_016878511.1:p.Ala248_Arg249delinsGly
XM_024450186.1:c.815_817del	XP_024305954.1:p.Ala272_Arg273delinsGly
XM_024450187.1:c.815_817del	XP_024305955.1:p.Ala272_Arg273delinsGly
XR_001751864.2:n.1857_1859del
XR_001751865.1:n.1804_1806del
XR_933240.3:n.2047_2049del
NM_001127214.4:c.1610_1612del	NP_001120686.1:p.Ala537_Arg538delinsGly
NM_001243279.3:c.1610_1612del MANE Select	NP_001230208.1:p.Ala537_Arg538delinsGly
NM_001284316.2:c.815_817del	NP_001271245.1:p.Ala272_Arg273delinsGly
NM_174917.5:c.1610_1612del	NP_777577.2:p.Ala537_Arg538delinsGly
NR_104293.2:n.2001_2003del
NR_147928.2:n.2045_2047del
NR_147929.2:n.1799_1801del