Canonical Allele Identifier: CA2634920769

Gene: ACSF3

Linked Data

• gnomAD v4: 16-89146045-G-GGC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89146045_89146046insGC , CM000678.2:g.89146045_89146046insGC	GRCh38
NC_000016.9:g.89212453_89212454insGC , CM000678.1:g.89212453_89212454insGC	GRCh37
NC_000016.8:g.87739954_87739955insGC	NCBI36
NG_031961.1:g.57237_57238insGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000317447.9:c.1609_1610insGC	ENSP00000320646.4:p.Ala537GlyfsTer?
ENST00000614302.5:c.1609_1610insGC MANE Select	ENSP00000479130.1:p.Ala537GlyfsTer?
ENST00000649953.1:c.1819_1820insGC	ENSP00000497456.1:p.Ala607GlyfsTer?
ENST00000317447.8:c.1609_1610insGC	ENSP00000320646.4:p.Ala537GlyfsTer?
ENST00000378345.8:c.814_815insGC	ENSP00000367596.4:p.Ala272GlyfsTer?
ENST00000406948.7:c.1609_1610insGC	ENSP00000384627.3:p.Ala537GlyfsTer?
ENST00000535176.1:c.96_97insGC
ENST00000537116.5:n.735_736insGC
ENST00000537155.1:n.349_350insGC
ENST00000542688.5:c.*353_*354insGC	ENSP00000446281.1:n.*353_*354insGC
ENST00000614302.4:c.1609_1610insGC	ENSP00000479130.1:p.Ala537GlyfsTer?
NM_001127214.3:c.1609_1610insGC	NP_001120686.1:p.Ala537GlyfsTer?
NM_001243279.2:c.1609_1610insGC	NP_001230208.1:p.Ala537GlyfsTer?
NM_001284316.1:c.814_815insGC	NP_001271245.1:p.Ala272GlyfsTer?
NM_174917.4:c.1609_1610insGC	NP_777577.2:p.Ala537GlyfsTer?
NR_045667.2:n.735_736insGC
NR_104293.1:n.2043_2044insGC
XM_005256293.1:c.1609_1610insGC	XP_005256350.1:p.Ala537GlyfsTer4
XM_011522942.1:c.1609_1610insGC	XP_011521244.1:p.Ala537GlyfsTer4
XM_011522943.1:c.1609_1610insGC	XP_011521245.1:p.Ala537GlyfsTer4
XR_933239.1:n.2050_2051insGC
XR_933240.1:n.2047_2048insGC
XR_933241.1:n.1804_1805insGC
NR_147928.1:n.2087_2088insGC
NR_147929.1:n.1841_1842insGC
XM_005256293.2:c.1609_1610insGC	XP_005256350.1:p.Ala537GlyfsTer4
XM_017023018.1:c.1609_1610insGC	XP_016878507.1:p.Ala537GlyfsTer4
XM_017023019.1:c.1609_1610insGC	XP_016878508.1:p.Ala537GlyfsTer?
XM_017023020.2:c.-3496_-3495insGC	XP_016878509.1:n.-3496_-3495insGC
XM_017023022.1:c.742_743insGC	XP_016878511.1:p.Ala248GlyfsTer4
XM_024450186.1:c.814_815insGC	XP_024305954.1:p.Ala272GlyfsTer4
XM_024450187.1:c.814_815insGC	XP_024305955.1:p.Ala272GlyfsTer?
XR_001751864.2:n.1856_1857insGC
XR_001751865.1:n.1803_1804insGC
XR_933240.3:n.2046_2047insGC
NM_001127214.4:c.1609_1610insGC	NP_001120686.1:p.Ala537GlyfsTer?
NM_001243279.3:c.1609_1610insGC MANE Select	NP_001230208.1:p.Ala537GlyfsTer?
NM_001284316.2:c.814_815insGC	NP_001271245.1:p.Ala272GlyfsTer?
NM_174917.5:c.1609_1610insGC	NP_777577.2:p.Ala537GlyfsTer?
NR_104293.2:n.2000_2001insGC
NR_147928.2:n.2044_2045insGC
NR_147929.2:n.1798_1799insGC