Canonical Allele Identifier: CA8238354

Gene: ACSF3

Linked Data

• dbSNP Id: rs777119534
• ExAC: 16:89220507 G / GCAGAT
• gnomAD v2: 16-89220507-G-GCAGAT
• gnomAD v3: 16-89154099-G-GCAGAT
• gnomAD v4: 16-89154099-G-GCAGAT
• MyVariant Identifiers: chr16:g.89220507_89220508insCAGAT (hg19) ; chr16:g.89154099_89154100insCAGAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154099_89154100insCAGAT , CM000678.2:g.89154099_89154100insCAGAT	GRCh38
NC_000016.9:g.89220507_89220508insCAGAT , CM000678.1:g.89220507_89220508insCAGAT	GRCh37
NC_000016.8:g.87748008_87748009insCAGAT	NCBI36
NG_031961.1:g.65291_65292insCAGAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000317447.9:c.1623_1624insCAGAT	ENSP00000320646.4:p.Ala542GlnfsTer?
ENST00000614302.5:c.1623_1624insCAGAT MANE Select	ENSP00000479130.1:p.Ala542GlnfsTer?
ENST00000649953.1:c.1833_1834insCAGAT	ENSP00000497456.1:p.Ala612GlnfsTer?
ENST00000317447.8:c.1623_1624insCAGAT	ENSP00000320646.4:p.Ala542GlnfsTer?
ENST00000378345.8:c.828_829insCAGAT	ENSP00000367596.4:p.Ala277GlnfsTer?
ENST00000393145.5:n.6533_6534insCAGAT
ENST00000406948.7:c.1623_1624insCAGAT	ENSP00000384627.3:p.Ala542GlnfsTer?
ENST00000537116.5:n.749_750insCAGAT
ENST00000537155.1:n.363_364insCAGAT
ENST00000542688.5:c.*367_*368insCAGAT	ENSP00000446281.1:n.*367_*368insCAGAT
ENST00000614302.4:c.1623_1624insCAGAT	ENSP00000479130.1:p.Ala542GlnfsTer?
NM_001127214.3:c.1623_1624insCAGAT	NP_001120686.1:p.Ala542GlnfsTer?
NM_001243279.2:c.1623_1624insCAGAT	NP_001230208.1:p.Ala542GlnfsTer?
NM_001284316.1:c.828_829insCAGAT	NP_001271245.1:p.Ala277GlnfsTer?
NM_174917.4:c.1623_1624insCAGAT	NP_777577.2:p.Ala542GlnfsTer?
NR_045667.2:n.749_750insCAGAT
NR_104293.1:n.2057_2058insCAGAT
XR_933239.1:n.2064_2065insCAGAT
XR_933240.1:n.2061_2062insCAGAT
XR_933241.1:n.1818_1819insCAGAT
NR_147928.1:n.2101_2102insCAGAT
NR_147929.1:n.1855_1856insCAGAT
XM_017023020.2:c.-3482_-3481insCAGAT	XP_016878509.1:n.-3482_-3481insCAGAT
XM_024450187.1:c.828_829insCAGAT	XP_024305955.1:p.Ala277GlnfsTer?
XR_001751864.2:n.1870_1871insCAGAT
XR_933240.3:n.2060_2061insCAGAT
NM_001127214.4:c.1623_1624insCAGAT	NP_001120686.1:p.Ala542GlnfsTer?
NM_001243279.3:c.1623_1624insCAGAT MANE Select	NP_001230208.1:p.Ala542GlnfsTer?
NM_001284316.2:c.828_829insCAGAT	NP_001271245.1:p.Ala277GlnfsTer?
NM_174917.5:c.1623_1624insCAGAT	NP_777577.2:p.Ala542GlnfsTer?
NR_104293.2:n.2014_2015insCAGAT
NR_147928.2:n.2058_2059insCAGAT
NR_147929.2:n.1812_1813insCAGAT