Canonical Allele Identifier: CA624225191

Gene: ACSF3

Linked Data

• ClinVar Variation Id: 2014997
• ClinVar RCV Id: RCV002839225
• dbSNP Id: rs1217487621
• gnomAD v2: 16-89211795-AC-A
• gnomAD v4: 16-89145387-AC-A
• MyVariant Identifiers: chr16:g.89211796del (hg19) ; chr16:g.89145388del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145391del , CM000678.2:g.89145391del	GRCh38
NC_000016.9:g.89211799del , CM000678.1:g.89211799del	GRCh37
NC_000016.8:g.87739300del	NCBI36
NG_031961.1:g.56583del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1491del	ENSP00000320646.4:p.Ser498AlafsTer7
ENST00000614302.5:c.1491del MANE Select	ENSP00000479130.1:p.Ser498AlafsTer7
ENST00000649953.1:c.1701del	ENSP00000497456.1:p.Ser568AlafsTer7
ENST00000317447.8:c.1491del	ENSP00000320646.4:p.Ser498AlafsTer7
ENST00000378345.8:c.696del	ENSP00000367596.4:p.Ser233AlafsTer7
ENST00000406948.7:c.1491del	ENSP00000384627.3:p.Ser498AlafsTer7
ENST00000537116.5:n.617del
ENST00000537155.1:n.231del
ENST00000542688.5:c.*235del	ENSP00000446281.1:n.*235del
ENST00000544543.5:c.696del	ENSP00000442781.1:p.Ser233AlafsTer?
ENST00000562204.1:n.464del
ENST00000614302.4:c.1491del	ENSP00000479130.1:p.Ser498AlafsTer7
NM_001127214.3:c.1491del	NP_001120686.1:p.Ser498AlafsTer7
NM_001243279.2:c.1491del	NP_001230208.1:p.Ser498AlafsTer7
NM_001284316.1:c.696del	NP_001271245.1:p.Ser233AlafsTer7
NM_174917.4:c.1491del	NP_777577.2:p.Ser498AlafsTer7
NR_045667.2:n.617del
NR_104293.1:n.1925del
XM_005256293.1:c.1491del	XP_005256350.1:p.Ser498AlafsTer7
XM_011522942.1:c.1491del	XP_011521244.1:p.Ser498AlafsTer7
XM_011522943.1:c.1491del	XP_011521245.1:p.Ser498AlafsTer7
XR_933239.1:n.1932del
XR_933240.1:n.1929del
XR_933241.1:n.1686del
NR_147928.1:n.1969del
NR_147929.1:n.1723del
XM_005256293.2:c.1491del	XP_005256350.1:p.Ser498AlafsTer7
XM_017023018.1:c.1491del	XP_016878507.1:p.Ser498AlafsTer7
XM_017023019.1:c.1491del	XP_016878508.1:p.Ser498AlafsTer7
XM_017023020.2:c.-3614del	XP_016878509.1:n.-3614del
XM_017023022.1:c.624del	XP_016878511.1:p.Ser209AlafsTer7
XM_024450186.1:c.696del	XP_024305954.1:p.Ser233AlafsTer7
XM_024450187.1:c.696del	XP_024305955.1:p.Ser233AlafsTer7
XR_001751864.2:n.1738del
XR_001751865.1:n.1685del
XR_933240.3:n.1928del
NM_001127214.4:c.1491del	NP_001120686.1:p.Ser498AlafsTer7
NM_001243279.3:c.1491del MANE Select	NP_001230208.1:p.Ser498AlafsTer7
NM_001284316.2:c.696del	NP_001271245.1:p.Ser233AlafsTer7
NM_174917.5:c.1491del	NP_777577.2:p.Ser498AlafsTer7
NR_104293.2:n.1882del
NR_147928.2:n.1926del
NR_147929.2:n.1680del