Canonical Allele Identifier: CA2831039573
Gene: ACSF3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89145282_89145283del , CM000678.2:g.89145282_89145283del GRCh38
NC_000016.9:g.89211690_89211691del , CM000678.1:g.89211690_89211691del GRCh37
NC_000016.8:g.87739191_87739192del NCBI36
NG_031961.1:g.56474_56475del

Transcript Alleles

HGVS Amino-acid Change
ENST00000317447.9:c.1382_1383del ENSP00000320646.4:p.Phe461Ter
ENST00000614302.5:c.1382_1383del MANE Select ENSP00000479130.1:p.Phe461Ter
ENST00000649953.1:c.1592_1593del ENSP00000497456.1:p.Phe531Ter
ENST00000317447.8:c.1382_1383del ENSP00000320646.4:p.Phe461Ter
ENST00000378345.8:c.587_588del ENSP00000367596.4:p.Phe196Ter
ENST00000406948.7:c.1382_1383del ENSP00000384627.3:p.Phe461Ter
ENST00000537116.5:n.508_509del
ENST00000537155.1:n.122_123del
ENST00000542688.5:c.*126_*127del ENSP00000446281.1:n.*126_*127del
ENST00000544543.5:c.587_588del ENSP00000442781.1:p.Phe196Ter
ENST00000562204.1:n.355_356del
ENST00000614302.4:c.1382_1383del ENSP00000479130.1:p.Phe461Ter
NM_001127214.3:c.1382_1383del NP_001120686.1:p.Phe461Ter
NM_001243279.2:c.1382_1383del NP_001230208.1:p.Phe461Ter
NM_001284316.1:c.587_588del NP_001271245.1:p.Phe196Ter
NM_174917.4:c.1382_1383del NP_777577.2:p.Phe461Ter
NR_045667.2:n.508_509del
NR_104293.1:n.1816_1817del
XM_005256293.1:c.1382_1383del XP_005256350.1:p.Phe461Ter
XM_011522942.1:c.1382_1383del XP_011521244.1:p.Phe461Ter
XM_011522943.1:c.1382_1383del XP_011521245.1:p.Phe461Ter
XR_933239.1:n.1823_1824del
XR_933240.1:n.1820_1821del
XR_933241.1:n.1577_1578del
NR_147928.1:n.1860_1861del
NR_147929.1:n.1614_1615del
XM_005256293.2:c.1382_1383del XP_005256350.1:p.Phe461Ter
XM_017023018.1:c.1382_1383del XP_016878507.1:p.Phe461Ter
XM_017023019.1:c.1382_1383del XP_016878508.1:p.Phe461Ter
XM_017023020.2:c.-3723_-3722del XP_016878509.1:n.-3723_-3722del
XM_017023022.1:c.515_516del XP_016878511.1:p.Phe172Ter
XM_024450186.1:c.587_588del XP_024305954.1:p.Phe196Ter
XM_024450187.1:c.587_588del XP_024305955.1:p.Phe196Ter
XR_001751864.2:n.1629_1630del
XR_001751865.1:n.1576_1577del
XR_933240.3:n.1819_1820del
NM_001127214.4:c.1382_1383del NP_001120686.1:p.Phe461Ter
NM_001243279.3:c.1382_1383del MANE Select NP_001230208.1:p.Phe461Ter
NM_001284316.2:c.587_588del NP_001271245.1:p.Phe196Ter
NM_174917.5:c.1382_1383del NP_777577.2:p.Phe461Ter
NR_104293.2:n.1773_1774del
NR_147928.2:n.1817_1818del
NR_147929.2:n.1571_1572del