Canonical Allele Identifier: CA2634920818

Gene: ACSF3

Linked Data

• gnomAD v4: 16-89146061-T-TGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89146065_89146066insGGGGGG , CM000678.2:g.89146065_89146066insGGGGGG	GRCh38
NC_000016.9:g.89212473_89212474insGGGGGG , CM000678.1:g.89212473_89212474insGGGGGG	GRCh37
NC_000016.8:g.87739974_87739975insGGGGGG	NCBI36
NG_031961.1:g.57257_57258insGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1613+16_1613+17insGGGGGG	ENSP00000320646.4:n.1613+16_1613+17insGGGGGG
ENST00000614302.5:c.1613+16_1613+17insGGGGGG MANE Select	ENSP00000479130.1:n.1613+16_1613+17insGGGGGG
ENST00000649953.1:c.1823+16_1823+17insGGGGGG	ENSP00000497456.1:n.1823+16_1823+17insGGGGGG
ENST00000317447.8:c.1613+16_1613+17insGGGGGG	ENSP00000320646.4:n.1613+16_1613+17insGGGGGG
ENST00000378345.8:c.818+16_818+17insGGGGGG	ENSP00000367596.4:n.818+16_818+17insGGGGGG
ENST00000406948.7:c.1613+16_1613+17insGGGGGG	ENSP00000384627.3:n.1613+16_1613+17insGGGGGG
ENST00000535176.1:c.100+16_100+17insGGGGGG
ENST00000537116.5:n.739+16_739+17insGGGGGG
ENST00000537155.1:n.353+16_353+17insGGGGGG
ENST00000542688.5:c.*357+16_*357+17insGGGGGG	ENSP00000446281.1:n.*357+16_*357+17insGGGGGG
ENST00000614302.4:c.1613+16_1613+17insGGGGGG	ENSP00000479130.1:n.1613+16_1613+17insGGGGGG
NM_001127214.3:c.1613+16_1613+17insGGGGGG	NP_001120686.1:n.1613+16_1613+17insGGGGGG
NM_001243279.2:c.1613+16_1613+17insGGGGGG	NP_001230208.1:n.1613+16_1613+17insGGGGGG
NM_001284316.1:c.818+16_818+17insGGGGGG	NP_001271245.1:n.818+16_818+17insGGGGGG
NM_174917.4:c.1613+16_1613+17insGGGGGG	NP_777577.2:n.1613+16_1613+17insGGGGGG
NR_045667.2:n.739+16_739+17insGGGGGG
NR_104293.1:n.2047+16_2047+17insGGGGGG
XM_005256293.1:c.1613+16_1613+17insGGGGGG	XP_005256350.1:n.1613+16_1613+17insGGGGGG
XM_011522942.1:c.1613+16_1613+17insGGGGGG	XP_011521244.1:n.1613+16_1613+17insGGGGGG
XM_011522943.1:c.1613+16_1613+17insGGGGGG	XP_011521245.1:n.1613+16_1613+17insGGGGGG
XR_933239.1:n.2054+16_2054+17insGGGGGG
XR_933240.1:n.2051+16_2051+17insGGGGGG
XR_933241.1:n.1808+16_1808+17insGGGGGG
NR_147928.1:n.2091+16_2091+17insGGGGGG
NR_147929.1:n.1845+16_1845+17insGGGGGG
XM_005256293.2:c.1613+16_1613+17insGGGGGG	XP_005256350.1:n.1613+16_1613+17insGGGGGG
XM_017023018.1:c.1613+16_1613+17insGGGGGG	XP_016878507.1:n.1613+16_1613+17insGGGGGG
XM_017023019.1:c.1613+16_1613+17insGGGGGG	XP_016878508.1:n.1613+16_1613+17insGGGGGG
XM_017023020.2:c.-3492+16_-3492+17insGGGGGG	XP_016878509.1:n.-3492+16_-3492+17insGGGGGG
XM_017023022.1:c.746+16_746+17insGGGGGG	XP_016878511.1:n.746+16_746+17insGGGGGG
XM_024450186.1:c.818+16_818+17insGGGGGG	XP_024305954.1:n.818+16_818+17insGGGGGG
XM_024450187.1:c.818+16_818+17insGGGGGG	XP_024305955.1:n.818+16_818+17insGGGGGG
XR_001751864.2:n.1860+16_1860+17insGGGGGG
XR_001751865.1:n.1807+16_1807+17insGGGGGG
XR_933240.3:n.2050+16_2050+17insGGGGGG
NM_001127214.4:c.1613+16_1613+17insGGGGGG	NP_001120686.1:n.1613+16_1613+17insGGGGGG
NM_001243279.3:c.1613+16_1613+17insGGGGGG MANE Select	NP_001230208.1:n.1613+16_1613+17insGGGGGG
NM_001284316.2:c.818+16_818+17insGGGGGG	NP_001271245.1:n.818+16_818+17insGGGGGG
NM_174917.5:c.1613+16_1613+17insGGGGGG	NP_777577.2:n.1613+16_1613+17insGGGGGG
NR_104293.2:n.2004+16_2004+17insGGGGGG
NR_147928.2:n.2048+16_2048+17insGGGGGG
NR_147929.2:n.1802+16_1802+17insGGGGGG