Canonical Allele Identifier: CA2241515830

Gene: ACSF3

Linked Data

• ClinVar Variation Id: 1429622
• ClinVar RCV Id: RCV001939030
• dbSNP Id: rs1912887899
• gnomAD v4: 16-89146042-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89146045del , CM000678.2:g.89146045del	GRCh38
NC_000016.9:g.89212453del , CM000678.1:g.89212453del	GRCh37
NC_000016.8:g.87739954del	NCBI36
NG_031961.1:g.57237del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1609del	ENSP00000320646.4:p.Ala537ProfsTer?
ENST00000614302.5:c.1609del MANE Select	ENSP00000479130.1:p.Ala537ProfsTer?
ENST00000649953.1:c.1819del	ENSP00000497456.1:p.Ala607ProfsTer?
ENST00000317447.8:c.1609del	ENSP00000320646.4:p.Ala537ProfsTer?
ENST00000378345.8:c.814del	ENSP00000367596.4:p.Ala272ProfsTer?
ENST00000406948.7:c.1609del	ENSP00000384627.3:p.Ala537ProfsTer?
ENST00000535176.1:c.96del
ENST00000537116.5:n.735del
ENST00000537155.1:n.349del
ENST00000542688.5:c.*353del	ENSP00000446281.1:n.*353del
ENST00000614302.4:c.1609del	ENSP00000479130.1:p.Ala537ProfsTer?
NM_001127214.3:c.1609del	NP_001120686.1:p.Ala537ProfsTer?
NM_001243279.2:c.1609del	NP_001230208.1:p.Ala537ProfsTer?
NM_001284316.1:c.814del	NP_001271245.1:p.Ala272ProfsTer?
NM_174917.4:c.1609del	NP_777577.2:p.Ala537ProfsTer?
NR_045667.2:n.735del
NR_104293.1:n.2043del
XM_005256293.1:c.1609del	XP_005256350.1:p.Ala537ProfsTer3
XM_011522942.1:c.1609del	XP_011521244.1:p.Ala537ProfsTer3
XM_011522943.1:c.1609del	XP_011521245.1:p.Ala537ProfsTer3
XR_933239.1:n.2050del
XR_933240.1:n.2047del
XR_933241.1:n.1804del
NR_147928.1:n.2087del
NR_147929.1:n.1841del
XM_005256293.2:c.1609del	XP_005256350.1:p.Ala537ProfsTer3
XM_017023018.1:c.1609del	XP_016878507.1:p.Ala537ProfsTer3
XM_017023019.1:c.1609del	XP_016878508.1:p.Ala537ProfsTer?
XM_017023020.2:c.-3496del	XP_016878509.1:n.-3496del
XM_017023022.1:c.742del	XP_016878511.1:p.Ala248ProfsTer3
XM_024450186.1:c.814del	XP_024305954.1:p.Ala272ProfsTer3
XM_024450187.1:c.814del	XP_024305955.1:p.Ala272ProfsTer?
XR_001751864.2:n.1856del
XR_001751865.1:n.1803del
XR_933240.3:n.2046del
NM_001127214.4:c.1609del	NP_001120686.1:p.Ala537ProfsTer?
NM_001243279.3:c.1609del MANE Select	NP_001230208.1:p.Ala537ProfsTer?
NM_001284316.2:c.814del	NP_001271245.1:p.Ala272ProfsTer?
NM_174917.5:c.1609del	NP_777577.2:p.Ala537ProfsTer?
NR_104293.2:n.2000del
NR_147928.2:n.2044del
NR_147929.2:n.1798del