Canonical Allele Identifier: CA980387282

Gene: ACSF3

Linked Data

• dbSNP Id: rs1975275787
• gnomAD v3: 16-89101175-TCCCGC-T
• gnomAD v4: 16-89101175-TCCCGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89101176_89101180del , CM000678.2:g.89101176_89101180del	GRCh38
NC_000016.9:g.89167584_89167588del , CM000678.1:g.89167584_89167588del	GRCh37
NC_000016.8:g.87695085_87695089del	NCBI36
NG_031961.1:g.12368_12372del

Transcript Alleles

HGVS	Amino-acid change
ENST00000317447.9:c.495_499del	ENSP00000320646.4:p.Pro166AlafsTer?
ENST00000614302.5:c.495_499del MANE Select	ENSP00000479130.1:p.Pro166AlafsTer?
ENST00000649953.1:c.495_499del	ENSP00000497456.1:p.Pro166AlafsTer?
ENST00000317447.8:c.495_499del	ENSP00000320646.4:p.Pro166AlafsTer?
ENST00000378345.8:c.-129-1428_-129-1424del	ENSP00000367596.4:n.-129-1428_-129-1424de...
ENST00000406948.7:c.495_499del	ENSP00000384627.3:p.Pro166AlafsTer?
ENST00000537290.5:c.495_499del	ENSP00000440734.1:p.Pro166AlafsTer?
ENST00000537895.5:c.-129-1428_-129-1424del	ENSP00000439201.1:n.-129-1428_-129-1424de...
ENST00000540697.5:c.-129-1428_-129-1424del	ENSP00000445397.1:n.-129-1428_-129-1424de...
ENST00000542688.5:c.495_499del	ENSP00000446281.1:p.Pro166AlafsTer?
ENST00000614302.4:c.495_499del	ENSP00000479130.1:p.Pro166AlafsTer?
NM_001127214.3:c.495_499del	NP_001120686.1:p.Pro166AlafsTer?
NM_001243279.2:c.495_499del	NP_001230208.1:p.Pro166AlafsTer?
NM_001284316.1:c.-129-1428_-129-1424del	NP_001271245.1:n.-129-1428_-129-1424del
NM_174917.4:c.495_499del	NP_777577.2:p.Pro166AlafsTer?
NR_104293.1:n.876_880del
XM_005256293.1:c.495_499del	XP_005256350.1:p.Pro166AlafsTer?
XM_011522942.1:c.495_499del	XP_011521244.1:p.Pro166AlafsTer?
XM_011522943.1:c.495_499del	XP_011521245.1:p.Pro166AlafsTer?
XM_011522944.1:c.495_499del	XP_011521246.1:p.Pro166AlafsTer?
XR_933238.1:n.839_843del
XR_933239.1:n.839_843del
XR_933240.1:n.839_843del
XR_933241.1:n.839_843del
NR_147928.1:n.876_880del
NR_147929.1:n.876_880del
XM_005256293.2:c.495_499del	XP_005256350.1:p.Pro166AlafsTer?
XM_017023018.1:c.495_499del	XP_016878507.1:p.Pro166AlafsTer?
XM_017023019.1:c.495_499del	XP_016878508.1:p.Pro166AlafsTer?
XM_017023020.2:c.-4514_-4510del	XP_016878509.1:n.-4514_-4510del
XM_017023021.1:c.495_499del	XP_016878510.1:p.Pro166AlafsTer?
XM_024450186.1:c.-129-1428_-129-1424del	XP_024305954.1:n.-129-1428_-129-1424del
XM_024450187.1:c.-129-1428_-129-1424del	XP_024305955.1:n.-129-1428_-129-1424del
XR_001751864.2:n.838_842del
XR_001751865.1:n.838_842del
XR_933238.2:n.838_842del
XR_933240.3:n.838_842del
NM_001127214.4:c.495_499del	NP_001120686.1:p.Pro166AlafsTer?
NM_001243279.3:c.495_499del MANE Select	NP_001230208.1:p.Pro166AlafsTer?
NM_001284316.2:c.-129-1428_-129-1424del	NP_001271245.1:n.-129-1428_-129-1424del
NM_174917.5:c.495_499del	NP_777577.2:p.Pro166AlafsTer?
NR_104293.2:n.833_837del
NR_147928.2:n.833_837del
NR_147929.2:n.833_837del