Canonical Allele Identifier: CA16620296
Gene: ACSF3 HGNC NCBI

Linked Data

ClinVar Variation Id: 419126
ClinVar RCV Id: RCV000480293 RCV001274023 RCV001383441
dbSNP Id: rs1064793662
gnomAD v4: 16-89145344-TAC-T
MyVariant Identifiers: chr16:g.89211754_89211755del (hg19) chr16:g.89145346_89145347del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89145346_89145347del , CM000678.2:g.89145346_89145347del GRCh38
NC_000016.9:g.89211754_89211755del , CM000678.1:g.89211754_89211755del GRCh37
NC_000016.8:g.87739255_87739256del NCBI36
NG_031961.1:g.56538_56539del

Transcript Alleles

HGVS Amino-acid change
ENST00000317447.9:c.1446_1447del ENSP00000320646.4:p.Tyr482Ter
ENST00000614302.5:c.1446_1447del MANE Select ENSP00000479130.1:p.Tyr482Ter
ENST00000649953.1:c.1656_1657del ENSP00000497456.1:p.Tyr552Ter
ENST00000317447.8:c.1446_1447del ENSP00000320646.4:p.Tyr482Ter
ENST00000378345.8:c.651_652del ENSP00000367596.4:p.Tyr217Ter
ENST00000406948.7:c.1446_1447del ENSP00000384627.3:p.Tyr482Ter
ENST00000537116.5:n.572_573del
ENST00000537155.1:n.186_187del
ENST00000542688.5:c.*190_*191del ENSP00000446281.1:n.*190_*191del
ENST00000544543.5:c.651_652del ENSP00000442781.1:p.Tyr217Ter
ENST00000562204.1:n.419_420del
ENST00000614302.4:c.1446_1447del ENSP00000479130.1:p.Tyr482Ter
NM_001127214.3:c.1446_1447del NP_001120686.1:p.Tyr482Ter
NM_001243279.2:c.1446_1447del NP_001230208.1:p.Tyr482Ter
NM_001284316.1:c.651_652del NP_001271245.1:p.Tyr217Ter
NM_174917.4:c.1446_1447del NP_777577.2:p.Tyr482Ter
NR_045667.2:n.572_573del
NR_104293.1:n.1880_1881del
XM_005256293.1:c.1446_1447del XP_005256350.1:p.Tyr482Ter
XM_011522942.1:c.1446_1447del XP_011521244.1:p.Tyr482Ter
XM_011522943.1:c.1446_1447del XP_011521245.1:p.Tyr482Ter
XR_933239.1:n.1887_1888del
XR_933240.1:n.1884_1885del
XR_933241.1:n.1641_1642del
NR_147928.1:n.1924_1925del
NR_147929.1:n.1678_1679del
XM_005256293.2:c.1446_1447del XP_005256350.1:p.Tyr482Ter
XM_017023018.1:c.1446_1447del XP_016878507.1:p.Tyr482Ter
XM_017023019.1:c.1446_1447del XP_016878508.1:p.Tyr482Ter
XM_017023020.2:c.-3659_-3658del XP_016878509.1:n.-3659_-3658del
XM_017023022.1:c.579_580del XP_016878511.1:p.Tyr193Ter
XM_024450186.1:c.651_652del XP_024305954.1:p.Tyr217Ter
XM_024450187.1:c.651_652del XP_024305955.1:p.Tyr217Ter
XR_001751864.2:n.1693_1694del
XR_001751865.1:n.1640_1641del
XR_933240.3:n.1883_1884del
NM_001127214.4:c.1446_1447del NP_001120686.1:p.Tyr482Ter
NM_001243279.3:c.1446_1447del MANE Select NP_001230208.1:p.Tyr482Ter
NM_001284316.2:c.651_652del NP_001271245.1:p.Tyr217Ter
NM_174917.5:c.1446_1447del NP_777577.2:p.Tyr482Ter
NR_104293.2:n.1837_1838del
NR_147928.2:n.1881_1882del
NR_147929.2:n.1635_1636del
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