Canonical Allele Identifier: CA2634920785

Gene: ACSF3

Linked Data

• gnomAD v4: 16-89146052-AGGGCTGGGTGGGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89146057_89146070del , CM000678.2:g.89146057_89146070del	GRCh38
NC_000016.9:g.89212465_89212478del , CM000678.1:g.89212465_89212478del	GRCh37
NC_000016.8:g.87739966_87739979del	NCBI36
NG_031961.1:g.57249_57262del

Transcript Alleles

HGVS	Amino-acid change
ENST00000317447.9:c.1613+8_1613+21del	ENSP00000320646.4:n.1613+8_1613+21del
ENST00000614302.5:c.1613+8_1613+21del MANE Select	ENSP00000479130.1:n.1613+8_1613+21del
ENST00000649953.1:c.1823+8_1823+21del	ENSP00000497456.1:n.1823+8_1823+21del
ENST00000317447.8:c.1613+8_1613+21del	ENSP00000320646.4:n.1613+8_1613+21del
ENST00000378345.8:c.818+8_818+21del	ENSP00000367596.4:n.818+8_818+21del
ENST00000406948.7:c.1613+8_1613+21del	ENSP00000384627.3:n.1613+8_1613+21del
ENST00000535176.1:c.100+8_100+21del
ENST00000537116.5:n.739+8_739+21del
ENST00000537155.1:n.353+8_353+21del
ENST00000542688.5:c.*357+8_*357+21del	ENSP00000446281.1:n.*357+8_*357+21del
ENST00000614302.4:c.1613+8_1613+21del	ENSP00000479130.1:n.1613+8_1613+21del
NM_001127214.3:c.1613+8_1613+21del	NP_001120686.1:n.1613+8_1613+21del
NM_001243279.2:c.1613+8_1613+21del	NP_001230208.1:n.1613+8_1613+21del
NM_001284316.1:c.818+8_818+21del	NP_001271245.1:n.818+8_818+21del
NM_174917.4:c.1613+8_1613+21del	NP_777577.2:n.1613+8_1613+21del
NR_045667.2:n.739+8_739+21del
NR_104293.1:n.2047+8_2047+21del
XM_005256293.1:c.1613+8_1613+21del	XP_005256350.1:n.1613+8_1613+21del
XM_011522942.1:c.1613+8_1613+21del	XP_011521244.1:n.1613+8_1613+21del
XM_011522943.1:c.1613+8_1613+21del	XP_011521245.1:n.1613+8_1613+21del
XR_933239.1:n.2054+8_2054+21del
XR_933240.1:n.2051+8_2051+21del
XR_933241.1:n.1808+8_1808+21del
NR_147928.1:n.2091+8_2091+21del
NR_147929.1:n.1845+8_1845+21del
XM_005256293.2:c.1613+8_1613+21del	XP_005256350.1:n.1613+8_1613+21del
XM_017023018.1:c.1613+8_1613+21del	XP_016878507.1:n.1613+8_1613+21del
XM_017023019.1:c.1613+8_1613+21del	XP_016878508.1:n.1613+8_1613+21del
XM_017023020.2:c.-3492+8_-3492+21del	XP_016878509.1:n.-3492+8_-3492+21del
XM_017023022.1:c.746+8_746+21del	XP_016878511.1:n.746+8_746+21del
XM_024450186.1:c.818+8_818+21del	XP_024305954.1:n.818+8_818+21del
XM_024450187.1:c.818+8_818+21del	XP_024305955.1:n.818+8_818+21del
XR_001751864.2:n.1860+8_1860+21del
XR_001751865.1:n.1807+8_1807+21del
XR_933240.3:n.2050+8_2050+21del
NM_001127214.4:c.1613+8_1613+21del	NP_001120686.1:n.1613+8_1613+21del
NM_001243279.3:c.1613+8_1613+21del MANE Select	NP_001230208.1:n.1613+8_1613+21del
NM_001284316.2:c.818+8_818+21del	NP_001271245.1:n.818+8_818+21del
NM_174917.5:c.1613+8_1613+21del	NP_777577.2:n.1613+8_1613+21del
NR_104293.2:n.2004+8_2004+21del
NR_147928.2:n.2048+8_2048+21del
NR_147929.2:n.1802+8_1802+21del