Canonical Allele Identifier: CA2634920780

Gene: ACSF3

Linked Data

• gnomAD v4: 16-89146050-GTAGGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89146052_89146057del , CM000678.2:g.89146052_89146057del	GRCh38
NC_000016.9:g.89212460_89212465del , CM000678.1:g.89212460_89212465del	GRCh37
NC_000016.8:g.87739961_87739966del	NCBI36
NG_031961.1:g.57244_57249del

Transcript Alleles

HGVS	Amino-acid change
ENST00000317447.9:c.1613+3_1613+8del	ENSP00000320646.4:n.1613+3_1613+8del
ENST00000614302.5:c.1613+3_1613+8del MANE Select	ENSP00000479130.1:n.1613+3_1613+8del
ENST00000649953.1:c.1823+3_1823+8del	ENSP00000497456.1:n.1823+3_1823+8del
ENST00000317447.8:c.1613+3_1613+8del	ENSP00000320646.4:n.1613+3_1613+8del
ENST00000378345.8:c.818+3_818+8del	ENSP00000367596.4:n.818+3_818+8del
ENST00000406948.7:c.1613+3_1613+8del	ENSP00000384627.3:n.1613+3_1613+8del
ENST00000535176.1:c.100+3_100+8del
ENST00000537116.5:n.739+3_739+8del
ENST00000537155.1:n.353+3_353+8del
ENST00000542688.5:c.*357+3_*357+8del	ENSP00000446281.1:n.*357+3_*357+8del
ENST00000614302.4:c.1613+3_1613+8del	ENSP00000479130.1:n.1613+3_1613+8del
NM_001127214.3:c.1613+3_1613+8del	NP_001120686.1:n.1613+3_1613+8del
NM_001243279.2:c.1613+3_1613+8del	NP_001230208.1:n.1613+3_1613+8del
NM_001284316.1:c.818+3_818+8del	NP_001271245.1:n.818+3_818+8del
NM_174917.4:c.1613+3_1613+8del	NP_777577.2:n.1613+3_1613+8del
NR_045667.2:n.739+3_739+8del
NR_104293.1:n.2047+3_2047+8del
XM_005256293.1:c.1613+3_1613+8del	XP_005256350.1:n.1613+3_1613+8del
XM_011522942.1:c.1613+3_1613+8del	XP_011521244.1:n.1613+3_1613+8del
XM_011522943.1:c.1613+3_1613+8del	XP_011521245.1:n.1613+3_1613+8del
XR_933239.1:n.2054+3_2054+8del
XR_933240.1:n.2051+3_2051+8del
XR_933241.1:n.1808+3_1808+8del
NR_147928.1:n.2091+3_2091+8del
NR_147929.1:n.1845+3_1845+8del
XM_005256293.2:c.1613+3_1613+8del	XP_005256350.1:n.1613+3_1613+8del
XM_017023018.1:c.1613+3_1613+8del	XP_016878507.1:n.1613+3_1613+8del
XM_017023019.1:c.1613+3_1613+8del	XP_016878508.1:n.1613+3_1613+8del
XM_017023020.2:c.-3492+3_-3492+8del	XP_016878509.1:n.-3492+3_-3492+8del
XM_017023022.1:c.746+3_746+8del	XP_016878511.1:n.746+3_746+8del
XM_024450186.1:c.818+3_818+8del	XP_024305954.1:n.818+3_818+8del
XM_024450187.1:c.818+3_818+8del	XP_024305955.1:n.818+3_818+8del
XR_001751864.2:n.1860+3_1860+8del
XR_001751865.1:n.1807+3_1807+8del
XR_933240.3:n.2050+3_2050+8del
NM_001127214.4:c.1613+3_1613+8del	NP_001120686.1:n.1613+3_1613+8del
NM_001243279.3:c.1613+3_1613+8del MANE Select	NP_001230208.1:n.1613+3_1613+8del
NM_001284316.2:c.818+3_818+8del	NP_001271245.1:n.818+3_818+8del
NM_174917.5:c.1613+3_1613+8del	NP_777577.2:n.1613+3_1613+8del
NR_104293.2:n.2004+3_2004+8del
NR_147928.2:n.2048+3_2048+8del
NR_147929.2:n.1802+3_1802+8del