Canonical Allele Identifier: CA624225167

Gene: ACSF3

Linked Data

• dbSNP Id: rs1459270286
• gnomAD v2: 16-89211697-TGGCCAGTACTGGATCCGA-T
• gnomAD v3: 16-89145289-TGGCCAGTACTGGATCCGA-T
• gnomAD v4: 16-89145289-TGGCCAGTACTGGATCCGA-T
• MyVariant Identifiers: chr16:g.89211698_89211715del (hg19) ; chr16:g.89145290_89145307del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145294_89145311del , CM000678.2:g.89145294_89145311del	GRCh38
NC_000016.9:g.89211702_89211719del , CM000678.1:g.89211702_89211719del	GRCh37
NC_000016.8:g.87739203_87739220del	NCBI36
NG_031961.1:g.56486_56503del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1394_1411del	ENSP00000320646.4:p.Gln465_Gly470del
ENST00000614302.5:c.1394_1411del MANE Select	ENSP00000479130.1:p.Gln465_Gly470del
ENST00000649953.1:c.1604_1621del	ENSP00000497456.1:p.Gln535_Gly540del
ENST00000317447.8:c.1394_1411del	ENSP00000320646.4:p.Gln465_Gly470del
ENST00000378345.8:c.599_616del	ENSP00000367596.4:p.Gln200_Gly205del
ENST00000406948.7:c.1394_1411del	ENSP00000384627.3:p.Gln465_Gly470del
ENST00000537116.5:n.520_537del
ENST00000537155.1:n.134_151del
ENST00000542688.5:c.*138_*155del	ENSP00000446281.1:n.*138_*155del
ENST00000544543.5:c.599_616del	ENSP00000442781.1:p.Gln200_Gly205del
ENST00000562204.1:n.367_384del
ENST00000614302.4:c.1394_1411del	ENSP00000479130.1:p.Gln465_Gly470del
NM_001127214.3:c.1394_1411del	NP_001120686.1:p.Gln465_Gly470del
NM_001243279.2:c.1394_1411del	NP_001230208.1:p.Gln465_Gly470del
NM_001284316.1:c.599_616del	NP_001271245.1:p.Gln200_Gly205del
NM_174917.4:c.1394_1411del	NP_777577.2:p.Gln465_Gly470del
NR_045667.2:n.520_537del
NR_104293.1:n.1828_1845del
XM_005256293.1:c.1394_1411del	XP_005256350.1:p.Gln465_Gly470del
XM_011522942.1:c.1394_1411del	XP_011521244.1:p.Gln465_Gly470del
XM_011522943.1:c.1394_1411del	XP_011521245.1:p.Gln465_Gly470del
XR_933239.1:n.1835_1852del
XR_933240.1:n.1832_1849del
XR_933241.1:n.1589_1606del
NR_147928.1:n.1872_1889del
NR_147929.1:n.1626_1643del
XM_005256293.2:c.1394_1411del	XP_005256350.1:p.Gln465_Gly470del
XM_017023018.1:c.1394_1411del	XP_016878507.1:p.Gln465_Gly470del
XM_017023019.1:c.1394_1411del	XP_016878508.1:p.Gln465_Gly470del
XM_017023020.2:c.-3711_-3694del	XP_016878509.1:n.-3711_-3694del
XM_017023022.1:c.527_544del	XP_016878511.1:p.Gln176_Gly181del
XM_024450186.1:c.599_616del	XP_024305954.1:p.Gln200_Gly205del
XM_024450187.1:c.599_616del	XP_024305955.1:p.Gln200_Gly205del
XR_001751864.2:n.1641_1658del
XR_001751865.1:n.1588_1605del
XR_933240.3:n.1831_1848del
NM_001127214.4:c.1394_1411del	NP_001120686.1:p.Gln465_Gly470del
NM_001243279.3:c.1394_1411del MANE Select	NP_001230208.1:p.Gln465_Gly470del
NM_001284316.2:c.599_616del	NP_001271245.1:p.Gln200_Gly205del
NM_174917.5:c.1394_1411del	NP_777577.2:p.Gln465_Gly470del
NR_104293.2:n.1785_1802del
NR_147928.2:n.1829_1846del
NR_147929.2:n.1583_1600del