Canonical Allele Identifier: CA624451499

Gene: ACSF3

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89114430_89114449dup , CM000678.2:g.89114430_89114449dup	GRCh38
NC_000016.9:g.89180838_89180857dup , CM000678.1:g.89180838_89180857dup	GRCh37
NC_000016.8:g.87708339_87708358dup	NCBI36
NG_031961.1:g.25622_25641dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1069_1088dup	ENSP00000320646.4:p.Leu364Ter
ENST00000614302.5:c.1069_1088dup MANE Select	ENSP00000479130.1:p.Leu364Ter
ENST00000649953.1:c.1069_1088dup	ENSP00000497456.1:p.Leu364Ter
ENST00000317447.8:c.1069_1088dup	ENSP00000320646.4:p.Leu364Ter
ENST00000378345.8:c.274_293dup	ENSP00000367596.4:p.Leu99Ter
ENST00000406948.7:c.1069_1088dup	ENSP00000384627.3:p.Leu364Ter
ENST00000537895.5:c.274_293dup	ENSP00000439201.1:p.Leu99Ter
ENST00000538340.5:c.302+2184_302+2203dup	ENSP00000445870.1:n.302+2184_302+2203dup
ENST00000540697.5:c.274_293dup	ENSP00000445397.1:p.Leu99Ter
ENST00000542688.5:c.977+2184_977+2203dup	ENSP00000446281.1:n.977+2184_977+2203dup
ENST00000543676.1:c.311_330dup
ENST00000544543.5:c.274_293dup	ENSP00000442781.1:p.Leu99Ter
ENST00000562204.1:n.46+2184_46+2203dup
ENST00000614302.4:c.1069_1088dup	ENSP00000479130.1:p.Leu364Ter
NM_001127214.3:c.1069_1088dup	NP_001120686.1:p.Leu364Ter
NM_001243279.2:c.1069_1088dup	NP_001230208.1:p.Leu364Ter
NM_001284316.1:c.274_293dup	NP_001271245.1:p.Leu99Ter
NM_174917.4:c.1069_1088dup	NP_777577.2:p.Leu364Ter
NR_104293.1:n.1450_1469dup
XM_005256293.1:c.1069_1088dup	XP_005256350.1:p.Leu364Ter
XM_011522942.1:c.1069_1088dup	XP_011521244.1:p.Leu364Ter
XM_011522943.1:c.1069_1088dup	XP_011521245.1:p.Leu364Ter
XM_011522944.1:c.1069_1088dup	XP_011521246.1:p.Leu364Ter
XR_933238.1:n.1413_1432dup
XR_933239.1:n.1413_1432dup
XR_933240.1:n.1413_1432dup
XR_933241.1:n.1321+2184_1321+2203dup
NR_147928.1:n.1450_1469dup
NR_147929.1:n.1358+2184_1358+2203dup
XM_005256293.2:c.1069_1088dup	XP_005256350.1:p.Leu364Ter
XM_017023018.1:c.1069_1088dup	XP_016878507.1:p.Leu364Ter
XM_017023019.1:c.1069_1088dup	XP_016878508.1:p.Leu364Ter
XM_017023020.2:c.-4032+2184_-4032+2203dup	XP_016878509.1:n.-4032+2184_-4032+2203dup
XM_017023021.1:c.1069_1088dup	XP_016878510.1:p.Leu364Ter
XM_024450186.1:c.274_293dup	XP_024305954.1:p.Leu99Ter
XM_024450187.1:c.274_293dup	XP_024305955.1:p.Leu99Ter
XR_001751864.2:n.1320+2184_1320+2203dup
XR_001751865.1:n.1320+2184_1320+2203dup
XR_933238.2:n.1412_1431dup
XR_933240.3:n.1412_1431dup
NM_001127214.4:c.1069_1088dup	NP_001120686.1:p.Leu364Ter
NM_001243279.3:c.1069_1088dup MANE Select	NP_001230208.1:p.Leu364Ter
NM_001284316.2:c.274_293dup	NP_001271245.1:p.Leu99Ter
NM_174917.5:c.1069_1088dup	NP_777577.2:p.Leu364Ter
NR_104293.2:n.1407_1426dup
NR_147928.2:n.1407_1426dup
NR_147929.2:n.1315+2184_1315+2203dup