Canonical Allele Identifier: CA980394045

Gene: ACSF3

Linked Data

• dbSNP Id: rs1912723081
• gnomAD v3: 16-89145383-G-GCC
• gnomAD v4: 16-89145383-G-GCC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145385_89145386dup , CM000678.2:g.89145385_89145386dup	GRCh38
NC_000016.9:g.89211793_89211794dup , CM000678.1:g.89211793_89211794dup	GRCh37
NC_000016.8:g.87739294_87739295dup	NCBI36
NG_031961.1:g.56577_56578dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1485_1486dup	ENSP00000320646.4:p.His496ProfsTer10
ENST00000614302.5:c.1485_1486dup MANE Select	ENSP00000479130.1:p.His496ProfsTer10
ENST00000649953.1:c.1695_1696dup	ENSP00000497456.1:p.His566ProfsTer10
ENST00000317447.8:c.1485_1486dup	ENSP00000320646.4:p.His496ProfsTer10
ENST00000378345.8:c.690_691dup	ENSP00000367596.4:p.His231ProfsTer10
ENST00000406948.7:c.1485_1486dup	ENSP00000384627.3:p.His496ProfsTer10
ENST00000537116.5:n.611_612dup
ENST00000537155.1:n.225_226dup
ENST00000542688.5:c.*229_*230dup	ENSP00000446281.1:n.*229_*230dup
ENST00000544543.5:c.690_691dup	ENSP00000442781.1:p.His231ProfsTer?
ENST00000562204.1:n.458_459dup
ENST00000614302.4:c.1485_1486dup	ENSP00000479130.1:p.His496ProfsTer10
NM_001127214.3:c.1485_1486dup	NP_001120686.1:p.His496ProfsTer10
NM_001243279.2:c.1485_1486dup	NP_001230208.1:p.His496ProfsTer10
NM_001284316.1:c.690_691dup	NP_001271245.1:p.His231ProfsTer10
NM_174917.4:c.1485_1486dup	NP_777577.2:p.His496ProfsTer10
NR_045667.2:n.611_612dup
NR_104293.1:n.1919_1920dup
XM_005256293.1:c.1485_1486dup	XP_005256350.1:p.His496ProfsTer10
XM_011522942.1:c.1485_1486dup	XP_011521244.1:p.His496ProfsTer10
XM_011522943.1:c.1485_1486dup	XP_011521245.1:p.His496ProfsTer10
XR_933239.1:n.1926_1927dup
XR_933240.1:n.1923_1924dup
XR_933241.1:n.1680_1681dup
NR_147928.1:n.1963_1964dup
NR_147929.1:n.1717_1718dup
XM_005256293.2:c.1485_1486dup	XP_005256350.1:p.His496ProfsTer10
XM_017023018.1:c.1485_1486dup	XP_016878507.1:p.His496ProfsTer10
XM_017023019.1:c.1485_1486dup	XP_016878508.1:p.His496ProfsTer10
XM_017023020.2:c.-3620_-3619dup	XP_016878509.1:n.-3620_-3619dup
XM_017023022.1:c.618_619dup	XP_016878511.1:p.His207ProfsTer10
XM_024450186.1:c.690_691dup	XP_024305954.1:p.His231ProfsTer10
XM_024450187.1:c.690_691dup	XP_024305955.1:p.His231ProfsTer10
XR_001751864.2:n.1732_1733dup
XR_001751865.1:n.1679_1680dup
XR_933240.3:n.1922_1923dup
NM_001127214.4:c.1485_1486dup	NP_001120686.1:p.His496ProfsTer10
NM_001243279.3:c.1485_1486dup MANE Select	NP_001230208.1:p.His496ProfsTer10
NM_001284316.2:c.690_691dup	NP_001271245.1:p.His231ProfsTer10
NM_174917.5:c.1485_1486dup	NP_777577.2:p.His496ProfsTer10
NR_104293.2:n.1876_1877dup
NR_147928.2:n.1920_1921dup
NR_147929.2:n.1674_1675dup