Canonical Allele Identifier: CA2634929473

Gene: ACSF3

Linked Data

• gnomAD v4: 16-89154122-AGCTGGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154130_89154135del , CM000678.2:g.89154130_89154135del	GRCh38
NC_000016.9:g.89220538_89220543del , CM000678.1:g.89220538_89220543del	GRCh37
NC_000016.8:g.87748039_87748044del	NCBI36
NG_031961.1:g.65322_65327del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1654_1659del	ENSP00000320646.4:p.Leu552_Val553del
ENST00000614302.5:c.1654_1659del MANE Select	ENSP00000479130.1:p.Leu552_Val553del
ENST00000649953.1:c.1864_1869del	ENSP00000497456.1:p.Leu622_Val623del
ENST00000317447.8:c.1654_1659del	ENSP00000320646.4:p.Leu552_Val553del
ENST00000378345.8:c.859_864del	ENSP00000367596.4:p.Leu287_Val288del
ENST00000393145.5:n.6564_6569del
ENST00000406948.7:c.1654_1659del	ENSP00000384627.3:p.Leu552_Val553del
ENST00000537116.5:n.780_785del
ENST00000537155.1:n.394_399del
ENST00000542688.5:c.*398_*403del	ENSP00000446281.1:n.*398_*403del
ENST00000614302.4:c.1654_1659del	ENSP00000479130.1:p.Leu552_Val553del
NM_001127214.3:c.1654_1659del	NP_001120686.1:p.Leu552_Val553del
NM_001243279.2:c.1654_1659del	NP_001230208.1:p.Leu552_Val553del
NM_001284316.1:c.859_864del	NP_001271245.1:p.Leu287_Val288del
NM_174917.4:c.1654_1659del	NP_777577.2:p.Leu552_Val553del
NR_045667.2:n.780_785del
NR_104293.1:n.2088_2093del
XR_933239.1:n.2095_2100del
XR_933240.1:n.2092_2097del
XR_933241.1:n.1849_1854del
NR_147928.1:n.2132_2137del
NR_147929.1:n.1886_1891del
XM_017023020.2:c.-3451_-3446del	XP_016878509.1:n.-3451_-3446del
XM_024450187.1:c.859_864del	XP_024305955.1:p.Leu287_Val288del
XR_001751864.2:n.1901_1906del
XR_933240.3:n.2091_2096del
NM_001127214.4:c.1654_1659del	NP_001120686.1:p.Leu552_Val553del
NM_001243279.3:c.1654_1659del MANE Select	NP_001230208.1:p.Leu552_Val553del
NM_001284316.2:c.859_864del	NP_001271245.1:p.Leu287_Val288del
NM_174917.5:c.1654_1659del	NP_777577.2:p.Leu552_Val553del
NR_104293.2:n.2045_2050del
NR_147928.2:n.2089_2094del
NR_147929.2:n.1843_1848del