Canonical Allele Identifier: CA2634920766

Gene: ACSF3

Linked Data

• gnomAD v4: 16-89146042-T-TGG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89146044_89146045dup , CM000678.2:g.89146044_89146045dup	GRCh38
NC_000016.9:g.89212452_89212453dup , CM000678.1:g.89212452_89212453dup	GRCh37
NC_000016.8:g.87739953_87739954dup	NCBI36
NG_031961.1:g.57236_57237dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1608_1609dup	ENSP00000320646.4:p.Ala537GlyfsTer?
ENST00000614302.5:c.1608_1609dup MANE Select	ENSP00000479130.1:p.Ala537GlyfsTer?
ENST00000649953.1:c.1818_1819dup	ENSP00000497456.1:p.Ala607GlyfsTer?
ENST00000317447.8:c.1608_1609dup	ENSP00000320646.4:p.Ala537GlyfsTer?
ENST00000378345.8:c.813_814dup	ENSP00000367596.4:p.Ala272GlyfsTer?
ENST00000406948.7:c.1608_1609dup	ENSP00000384627.3:p.Ala537GlyfsTer?
ENST00000535176.1:c.95_96dup
ENST00000537116.5:n.734_735dup
ENST00000537155.1:n.348_349dup
ENST00000542688.5:c.*352_*353dup	ENSP00000446281.1:n.*352_*353dup
ENST00000614302.4:c.1608_1609dup	ENSP00000479130.1:p.Ala537GlyfsTer?
NM_001127214.3:c.1608_1609dup	NP_001120686.1:p.Ala537GlyfsTer?
NM_001243279.2:c.1608_1609dup	NP_001230208.1:p.Ala537GlyfsTer?
NM_001284316.1:c.813_814dup	NP_001271245.1:p.Ala272GlyfsTer?
NM_174917.4:c.1608_1609dup	NP_777577.2:p.Ala537GlyfsTer?
NR_045667.2:n.734_735dup
NR_104293.1:n.2042_2043dup
XM_005256293.1:c.1608_1609dup	XP_005256350.1:p.Ala537GlyfsTer4
XM_011522942.1:c.1608_1609dup	XP_011521244.1:p.Ala537GlyfsTer4
XM_011522943.1:c.1608_1609dup	XP_011521245.1:p.Ala537GlyfsTer4
XR_933239.1:n.2049_2050dup
XR_933240.1:n.2046_2047dup
XR_933241.1:n.1803_1804dup
NR_147928.1:n.2086_2087dup
NR_147929.1:n.1840_1841dup
XM_005256293.2:c.1608_1609dup	XP_005256350.1:p.Ala537GlyfsTer4
XM_017023018.1:c.1608_1609dup	XP_016878507.1:p.Ala537GlyfsTer4
XM_017023019.1:c.1608_1609dup	XP_016878508.1:p.Ala537GlyfsTer?
XM_017023020.2:c.-3497_-3496dup	XP_016878509.1:n.-3497_-3496dup
XM_017023022.1:c.741_742dup	XP_016878511.1:p.Ala248GlyfsTer4
XM_024450186.1:c.813_814dup	XP_024305954.1:p.Ala272GlyfsTer4
XM_024450187.1:c.813_814dup	XP_024305955.1:p.Ala272GlyfsTer?
XR_001751864.2:n.1855_1856dup
XR_001751865.1:n.1802_1803dup
XR_933240.3:n.2045_2046dup
NM_001127214.4:c.1608_1609dup	NP_001120686.1:p.Ala537GlyfsTer?
NM_001243279.3:c.1608_1609dup MANE Select	NP_001230208.1:p.Ala537GlyfsTer?
NM_001284316.2:c.813_814dup	NP_001271245.1:p.Ala272GlyfsTer?
NM_174917.5:c.1608_1609dup	NP_777577.2:p.Ala537GlyfsTer?
NR_104293.2:n.1999_2000dup
NR_147928.2:n.2043_2044dup
NR_147929.2:n.1797_1798dup