Canonical Allele Identifier: CA8238219

Gene: ACSF3

Linked Data

• dbSNP Id: rs754825326
• ExAC: 16:89211738 T / TCAAGACTGGAGGCTA
• gnomAD v2: 16-89211738-T-TCAAGACTGGAGGCTA
• gnomAD v4: 16-89145330-T-TCAAGACTGGAGGCTA
• MyVariant Identifiers: chr16:g.89211738_89211739insCAAGACTGGAGGCTA (hg19) ; chr16:g.89145330_89145331insCAAGACTGGAGGCTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145335_89145349dup , CM000678.2:g.89145335_89145349dup	GRCh38
NC_000016.9:g.89211743_89211757dup , CM000678.1:g.89211743_89211757dup	GRCh37
NC_000016.8:g.87739244_87739258dup	NCBI36
NG_031961.1:g.56527_56541dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1435_1449dup	ENSP00000320646.4:p.Lys483_Val484insThrGlyGlyTyrLys
ENST00000614302.5:c.1435_1449dup MANE Select	ENSP00000479130.1:p.Lys483_Val484insThrGlyGlyTyrLys
ENST00000649953.1:c.1645_1659dup	ENSP00000497456.1:p.Lys553_Val554insThrGlyGlyTyrLys
ENST00000317447.8:c.1435_1449dup	ENSP00000320646.4:p.Lys483_Val484insThrGlyGlyTyrLys
ENST00000378345.8:c.640_654dup	ENSP00000367596.4:p.Lys218_Val219insThrGlyGlyTyrLys
ENST00000406948.7:c.1435_1449dup	ENSP00000384627.3:p.Lys483_Val484insThrGlyGlyTyrLys
ENST00000537116.5:n.561_575dup
ENST00000537155.1:n.175_189dup
ENST00000542688.5:c.*179_*193dup	ENSP00000446281.1:n.*179_*193dup
ENST00000544543.5:c.640_654dup	ENSP00000442781.1:p.Lys218_Val219insThrGlyGlyTyrLys
ENST00000562204.1:n.408_422dup
ENST00000614302.4:c.1435_1449dup	ENSP00000479130.1:p.Lys483_Val484insThrGlyGlyTyrLys
NM_001127214.3:c.1435_1449dup	NP_001120686.1:p.Lys483_Val484insThrGlyGlyTyrLys
NM_001243279.2:c.1435_1449dup	NP_001230208.1:p.Lys483_Val484insThrGlyGlyTyrLys
NM_001284316.1:c.640_654dup	NP_001271245.1:p.Lys218_Val219insThrGlyGlyTyrLys
NM_174917.4:c.1435_1449dup	NP_777577.2:p.Lys483_Val484insThrGlyGlyTyrLys
NR_045667.2:n.561_575dup
NR_104293.1:n.1869_1883dup
XM_005256293.1:c.1435_1449dup	XP_005256350.1:p.Lys483_Val484insThrGlyGlyTyrLys
XM_011522942.1:c.1435_1449dup	XP_011521244.1:p.Lys483_Val484insThrGlyGlyTyrLys
XM_011522943.1:c.1435_1449dup	XP_011521245.1:p.Lys483_Val484insThrGlyGlyTyrLys
XR_933239.1:n.1876_1890dup
XR_933240.1:n.1873_1887dup
XR_933241.1:n.1630_1644dup
NR_147928.1:n.1913_1927dup
NR_147929.1:n.1667_1681dup
XM_005256293.2:c.1435_1449dup	XP_005256350.1:p.Lys483_Val484insThrGlyGlyTyrLys
XM_017023018.1:c.1435_1449dup	XP_016878507.1:p.Lys483_Val484insThrGlyGlyTyrLys
XM_017023019.1:c.1435_1449dup	XP_016878508.1:p.Lys483_Val484insThrGlyGlyTyrLys
XM_017023020.2:c.-3670_-3656dup	XP_016878509.1:n.-3670_-3656dup
XM_017023022.1:c.568_582dup	XP_016878511.1:p.Lys194_Val195insThrGlyGlyTyrLys
XM_024450186.1:c.640_654dup	XP_024305954.1:p.Lys218_Val219insThrGlyGlyTyrLys
XM_024450187.1:c.640_654dup	XP_024305955.1:p.Lys218_Val219insThrGlyGlyTyrLys
XR_001751864.2:n.1682_1696dup
XR_001751865.1:n.1629_1643dup
XR_933240.3:n.1872_1886dup
NM_001127214.4:c.1435_1449dup	NP_001120686.1:p.Lys483_Val484insThrGlyGlyTyrLys
NM_001243279.3:c.1435_1449dup MANE Select	NP_001230208.1:p.Lys483_Val484insThrGlyGlyTyrLys
NM_001284316.2:c.640_654dup	NP_001271245.1:p.Lys218_Val219insThrGlyGlyTyrLys
NM_174917.5:c.1435_1449dup	NP_777577.2:p.Lys483_Val484insThrGlyGlyTyrLys
NR_104293.2:n.1826_1840dup
NR_147928.2:n.1870_1884dup
NR_147929.2:n.1624_1638dup