Canonical Allele Identifier: CA624226855

Gene: ACSF3

Linked Data

• dbSNP Id: rs1215531620
• gnomAD v2: 16-89220530-A-AGCTGGT
• gnomAD v3: 16-89154122-A-AGCTGGT
• gnomAD v4: 16-89154122-A-AGCTGGT
• MyVariant Identifiers: chr16:g.89220530_89220531insGCTGGT (hg19) ; chr16:g.89154122_89154123insGCTGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154130_89154135dup , CM000678.2:g.89154130_89154135dup	GRCh38
NC_000016.9:g.89220538_89220543dup , CM000678.1:g.89220538_89220543dup	GRCh37
NC_000016.8:g.87748039_87748044dup	NCBI36
NG_031961.1:g.65322_65327dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1654_1659dup	ENSP00000320646.4:p.Val553_Glu554insLeuVal
ENST00000614302.5:c.1654_1659dup MANE Select	ENSP00000479130.1:p.Val553_Glu554insLeuVal
ENST00000649953.1:c.1864_1869dup	ENSP00000497456.1:p.Val623_Glu624insLeuVal
ENST00000317447.8:c.1654_1659dup	ENSP00000320646.4:p.Val553_Glu554insLeuVal
ENST00000378345.8:c.859_864dup	ENSP00000367596.4:p.Val288_Glu289insLeuVal
ENST00000393145.5:n.6564_6569dup
ENST00000406948.7:c.1654_1659dup	ENSP00000384627.3:p.Val553_Glu554insLeuVal
ENST00000537116.5:n.780_785dup
ENST00000537155.1:n.394_399dup
ENST00000542688.5:c.*398_*403dup	ENSP00000446281.1:n.*398_*403dup
ENST00000614302.4:c.1654_1659dup	ENSP00000479130.1:p.Val553_Glu554insLeuVal
NM_001127214.3:c.1654_1659dup	NP_001120686.1:p.Val553_Glu554insLeuVal
NM_001243279.2:c.1654_1659dup	NP_001230208.1:p.Val553_Glu554insLeuVal
NM_001284316.1:c.859_864dup	NP_001271245.1:p.Val288_Glu289insLeuVal
NM_174917.4:c.1654_1659dup	NP_777577.2:p.Val553_Glu554insLeuVal
NR_045667.2:n.780_785dup
NR_104293.1:n.2088_2093dup
XR_933239.1:n.2095_2100dup
XR_933240.1:n.2092_2097dup
XR_933241.1:n.1849_1854dup
NR_147928.1:n.2132_2137dup
NR_147929.1:n.1886_1891dup
XM_017023020.2:c.-3451_-3446dup	XP_016878509.1:n.-3451_-3446dup
XM_024450187.1:c.859_864dup	XP_024305955.1:p.Val288_Glu289insLeuVal
XR_001751864.2:n.1901_1906dup
XR_933240.3:n.2091_2096dup
NM_001127214.4:c.1654_1659dup	NP_001120686.1:p.Val553_Glu554insLeuVal
NM_001243279.3:c.1654_1659dup MANE Select	NP_001230208.1:p.Val553_Glu554insLeuVal
NM_001284316.2:c.859_864dup	NP_001271245.1:p.Val288_Glu289insLeuVal
NM_174917.5:c.1654_1659dup	NP_777577.2:p.Val553_Glu554insLeuVal
NR_104293.2:n.2045_2050dup
NR_147928.2:n.2089_2094dup
NR_147929.2:n.1843_1848dup