Canonical Allele Identifier: CA2634920954

Gene: ACSF3

Linked Data

• gnomAD v4: 16-89146106-GAGGGCCACCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89146110_89146120del , CM000678.2:g.89146110_89146120del	GRCh38
NC_000016.9:g.89212518_89212528del , CM000678.1:g.89212518_89212528del	GRCh37
NC_000016.8:g.87740019_87740029del	NCBI36
NG_031961.1:g.57302_57312del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1613+61_1613+71del	ENSP00000320646.4:n.1613+61_1613+71del
ENST00000614302.5:c.1613+61_1613+71del MANE Select	ENSP00000479130.1:n.1613+61_1613+71del
ENST00000649953.1:c.1823+61_1823+71del	ENSP00000497456.1:n.1823+61_1823+71del
ENST00000317447.8:c.1613+61_1613+71del	ENSP00000320646.4:n.1613+61_1613+71del
ENST00000378345.8:c.818+61_818+71del	ENSP00000367596.4:n.818+61_818+71del
ENST00000406948.7:c.1613+61_1613+71del	ENSP00000384627.3:n.1613+61_1613+71del
ENST00000535176.1:c.100+61_100+71del
ENST00000537116.5:n.739+61_739+71del
ENST00000537155.1:n.353+61_353+71del
ENST00000542688.5:c.*357+61_*357+71del	ENSP00000446281.1:n.*357+61_*357+71del
ENST00000614302.4:c.1613+61_1613+71del	ENSP00000479130.1:n.1613+61_1613+71del
NM_001127214.3:c.1613+61_1613+71del	NP_001120686.1:n.1613+61_1613+71del
NM_001243279.2:c.1613+61_1613+71del	NP_001230208.1:n.1613+61_1613+71del
NM_001284316.1:c.818+61_818+71del	NP_001271245.1:n.818+61_818+71del
NM_174917.4:c.1613+61_1613+71del	NP_777577.2:n.1613+61_1613+71del
NR_045667.2:n.739+61_739+71del
NR_104293.1:n.2047+61_2047+71del
XM_005256293.1:c.1613+61_1613+71del	XP_005256350.1:n.1613+61_1613+71del
XM_011522942.1:c.1613+61_1613+71del	XP_011521244.1:n.1613+61_1613+71del
XM_011522943.1:c.1613+61_1613+71del	XP_011521245.1:n.1613+61_1613+71del
XR_933239.1:n.2054+61_2054+71del
XR_933240.1:n.2051+61_2051+71del
XR_933241.1:n.1808+61_1808+71del
NR_147928.1:n.2091+61_2091+71del
NR_147929.1:n.1845+61_1845+71del
XM_005256293.2:c.1613+61_1613+71del	XP_005256350.1:n.1613+61_1613+71del
XM_017023018.1:c.1613+61_1613+71del	XP_016878507.1:n.1613+61_1613+71del
XM_017023019.1:c.1613+61_1613+71del	XP_016878508.1:n.1613+61_1613+71del
XM_017023020.2:c.-3492+61_-3492+71del	XP_016878509.1:n.-3492+61_-3492+71del
XM_017023022.1:c.746+61_746+71del	XP_016878511.1:n.746+61_746+71del
XM_024450186.1:c.818+61_818+71del	XP_024305954.1:n.818+61_818+71del
XM_024450187.1:c.818+61_818+71del	XP_024305955.1:n.818+61_818+71del
XR_001751864.2:n.1860+61_1860+71del
XR_001751865.1:n.1807+61_1807+71del
XR_933240.3:n.2050+61_2050+71del
NM_001127214.4:c.1613+61_1613+71del	NP_001120686.1:n.1613+61_1613+71del
NM_001243279.3:c.1613+61_1613+71del MANE Select	NP_001230208.1:n.1613+61_1613+71del
NM_001284316.2:c.818+61_818+71del	NP_001271245.1:n.818+61_818+71del
NM_174917.5:c.1613+61_1613+71del	NP_777577.2:n.1613+61_1613+71del
NR_104293.2:n.2004+61_2004+71del
NR_147928.2:n.2048+61_2048+71del
NR_147929.2:n.1802+61_1802+71del