Canonical Allele Identifier: CA624226922

Gene: ACSF3

Linked Data

• ClinVar Variation Id: 1906369
• ClinVar RCV Id: RCV002586865
• dbSNP Id: rs1471702467
• gnomAD v2: 16-89220602-TC-T
• gnomAD v4: 16-89154194-TC-T
• MyVariant Identifiers: chr16:g.89220603del (hg19) ; chr16:g.89154195del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154196del , CM000678.2:g.89154196del	GRCh38
NC_000016.9:g.89220604del , CM000678.1:g.89220604del	GRCh37
NC_000016.8:g.87748105del	NCBI36
NG_031961.1:g.65388del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1720del	ENSP00000320646.4:p.His574ThrfsTer?
ENST00000614302.5:c.1720del MANE Select	ENSP00000479130.1:p.His574ThrfsTer?
ENST00000649953.1:c.1930del	ENSP00000497456.1:p.His644ThrfsTer?
ENST00000317447.8:c.1720del	ENSP00000320646.4:p.His574ThrfsTer?
ENST00000378345.8:c.925del	ENSP00000367596.4:p.His309ThrfsTer?
ENST00000393145.5:n.6630del
ENST00000406948.7:c.1720del	ENSP00000384627.3:p.His574ThrfsTer?
ENST00000537116.5:n.846del
ENST00000537155.1:n.460del
ENST00000542688.5:c.*464del	ENSP00000446281.1:n.*464del
ENST00000614302.4:c.1720del	ENSP00000479130.1:p.His574ThrfsTer?
NM_001127214.3:c.1720del	NP_001120686.1:p.His574ThrfsTer?
NM_001243279.2:c.1720del	NP_001230208.1:p.His574ThrfsTer?
NM_001284316.1:c.925del	NP_001271245.1:p.His309ThrfsTer?
NM_174917.4:c.1720del	NP_777577.2:p.His574ThrfsTer?
NR_045667.2:n.846del
NR_104293.1:n.2154del
XR_933239.1:n.2161del
XR_933240.1:n.2158del
XR_933241.1:n.1915del
NR_147928.1:n.2198del
NR_147929.1:n.1952del
XM_017023020.2:c.-3385del	XP_016878509.1:n.-3385del
XM_024450187.1:c.925del	XP_024305955.1:p.His309ThrfsTer?
XR_001751864.2:n.1967del
XR_933240.3:n.2157del
NM_001127214.4:c.1720del	NP_001120686.1:p.His574ThrfsTer?
NM_001243279.3:c.1720del MANE Select	NP_001230208.1:p.His574ThrfsTer?
NM_001284316.2:c.925del	NP_001271245.1:p.His309ThrfsTer?
NM_174917.5:c.1720del	NP_777577.2:p.His574ThrfsTer?
NR_104293.2:n.2111del
NR_147928.2:n.2155del
NR_147929.2:n.1909del