Canonical Allele Identifier: CA2634928579

Gene: ACSF3

Linked Data

• gnomAD v4: 16-89153831-G-GGAGCTGGTGCTGGTGGAGGAGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89153831_89153832insGAGCTGGTGCTGGTGGAGGAGAT , CM000678.2:g.89153831_89153832insGAGCTGGTGCTGGTGGAGGAGAT	GRCh38
NC_000016.9:g.89220239_89220240insGAGCTGGTGCTGGTGGAGGAGAT , CM000678.1:g.89220239_89220240insGAGCTGGTGCTGGTGGAGGAGAT	GRCh37
NC_000016.8:g.87747740_87747741insGAGCTGGTGCTGGTGGAGGAGAT	NCBI36
NG_031961.1:g.65023_65024insGAGCTGGTGCTGGTGGAGGAGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1614-259_1614-258insGAGCTGGTGCTGGTGGAGGAGAT	ENSP00000320646.4:n.1614-259_1614-258insGAGCTGGTGCTGGTGGAGGAG...
ENST00000614302.5:c.1614-259_1614-258insGAGCTGGTGCTGGTGGAGGAGAT MANE Select	ENSP00000479130.1:n.1614-259_1614-258insGAGCTGGTGCTGGTGGAGGAG...
ENST00000649953.1:c.1824-259_1824-258insGAGCTGGTGCTGGTGGAGGAGAT	ENSP00000497456.1:n.1824-259_1824-258insGAGCTGGTGCTGGTGGAGGAG...
ENST00000317447.8:c.1614-259_1614-258insGAGCTGGTGCTGGTGGAGGAGAT	ENSP00000320646.4:n.1614-259_1614-258insGAGCTGGTGCTGGTGGAGGAG...
ENST00000378345.8:c.819-259_819-258insGAGCTGGTGCTGGTGGAGGAGAT	ENSP00000367596.4:n.819-259_819-258insGAGCTGGTGCTGGTGGAGGAGAT...
ENST00000393145.5:n.6265_6266insGAGCTGGTGCTGGTGGAGGAGAT
ENST00000406948.7:c.1614-259_1614-258insGAGCTGGTGCTGGTGGAGGAGAT	ENSP00000384627.3:n.1614-259_1614-258insGAGCTGGTGCTGGTGGAGGAG...
ENST00000537116.5:n.740-259_740-258insGAGCTGGTGCTGGTGGAGGAGAT
ENST00000537155.1:n.354-259_354-258insGAGCTGGTGCTGGTGGAGGAGAT
ENST00000542688.5:c.*358-259_*358-258insGAGCTGGTGCTGGTGGAGGAGAT	ENSP00000446281.1:n.*358-259_*358-258insGAGCTGGTGCTGGTGGAGGAG...
ENST00000614302.4:c.1614-259_1614-258insGAGCTGGTGCTGGTGGAGGAGAT	ENSP00000479130.1:n.1614-259_1614-258insGAGCTGGTGCTGGTGGAGGAG...
NM_001127214.3:c.1614-259_1614-258insGAGCTGGTGCTGGTGGAGGAGAT	NP_001120686.1:n.1614-259_1614-258insGAGCTGGTGCTGGTGGAGGAGAT
NM_001243279.2:c.1614-259_1614-258insGAGCTGGTGCTGGTGGAGGAGAT	NP_001230208.1:n.1614-259_1614-258insGAGCTGGTGCTGGTGGAGGAGAT
NM_001284316.1:c.819-259_819-258insGAGCTGGTGCTGGTGGAGGAGAT	NP_001271245.1:n.819-259_819-258insGAGCTGGTGCTGGTGGAGGAGAT
NM_174917.4:c.1614-259_1614-258insGAGCTGGTGCTGGTGGAGGAGAT	NP_777577.2:n.1614-259_1614-258insGAGCTGGTGCTGGTGGAGGAGAT
NR_045667.2:n.740-259_740-258insGAGCTGGTGCTGGTGGAGGAGAT
NR_104293.1:n.2048-259_2048-258insGAGCTGGTGCTGGTGGAGGAGAT
XR_933239.1:n.2055-259_2055-258insGAGCTGGTGCTGGTGGAGGAGAT
XR_933240.1:n.2052-259_2052-258insGAGCTGGTGCTGGTGGAGGAGAT
XR_933241.1:n.1809-259_1809-258insGAGCTGGTGCTGGTGGAGGAGAT
NR_147928.1:n.2092-259_2092-258insGAGCTGGTGCTGGTGGAGGAGAT
NR_147929.1:n.1846-259_1846-258insGAGCTGGTGCTGGTGGAGGAGAT
XM_017023020.2:c.-3491-259_-3491-258insGAGCTGGTGCTGGTGGAGGAGAT	XP_016878509.1:n.-3491-259_-3491-258insGAGCTGGTGCTGGTGGAGGAGA...
XM_024450187.1:c.819-259_819-258insGAGCTGGTGCTGGTGGAGGAGAT	XP_024305955.1:n.819-259_819-258insGAGCTGGTGCTGGTGGAGGAGAT
XR_001751864.2:n.1861-259_1861-258insGAGCTGGTGCTGGTGGAGGAGAT
XR_933240.3:n.2051-259_2051-258insGAGCTGGTGCTGGTGGAGGAGAT
NM_001127214.4:c.1614-259_1614-258insGAGCTGGTGCTGGTGGAGGAGAT	NP_001120686.1:n.1614-259_1614-258insGAGCTGGTGCTGGTGGAGGAGAT
NM_001243279.3:c.1614-259_1614-258insGAGCTGGTGCTGGTGGAGGAGAT MANE Select	NP_001230208.1:n.1614-259_1614-258insGAGCTGGTGCTGGTGGAGGAGAT
NM_001284316.2:c.819-259_819-258insGAGCTGGTGCTGGTGGAGGAGAT	NP_001271245.1:n.819-259_819-258insGAGCTGGTGCTGGTGGAGGAGAT
NM_174917.5:c.1614-259_1614-258insGAGCTGGTGCTGGTGGAGGAGAT	NP_777577.2:n.1614-259_1614-258insGAGCTGGTGCTGGTGGAGGAGAT
NR_104293.2:n.2005-259_2005-258insGAGCTGGTGCTGGTGGAGGAGAT
NR_147928.2:n.2049-259_2049-258insGAGCTGGTGCTGGTGGAGGAGAT
NR_147929.2:n.1803-259_1803-258insGAGCTGGTGCTGGTGGAGGAGAT