Canonical Allele Identifier: CA16043011
Gene: ALG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373810
ClinVar RCV Id: RCV000413517
dbSNP Id: rs1057518625
MyVariant Identifiers: chr16:g.5121919del (hg19) chr16:g.5071918del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.5071918del , CM000678.2:g.5071918del GRCh38
NC_000016.9:g.5121919del , CM000678.1:g.5121919del GRCh37
NC_000016.8:g.5061920del NCBI36
NG_009202.1:g.5110del

Transcript Alleles

HGVS Amino-acid change
ENST00000592793.6:n.76del
ENST00000682020.1:c.-55-5527del ENSP00000508075.1:n.-55-5527del
ENST00000682206.1:c.69del ENSP00000508285.1:p.Trp23Ter
ENST00000682314.1:n.113del
ENST00000682327.1:c.-99-3470del ENSP00000507058.1:n.-99-3470del
ENST00000682349.1:n.76del
ENST00000682703.1:n.76del
ENST00000682797.1:c.69del ENSP00000507582.1:p.Trp23Ter
ENST00000682985.1:c.-99-3470del ENSP00000507598.1:n.-99-3470del
ENST00000683433.1:c.-55-5527del ENSP00000507463.1:n.-55-5527del
ENST00000683685.1:n.113del
ENST00000683710.1:c.69del ENSP00000506785.1:p.Trp23Ter
ENST00000683772.1:n.113del
ENST00000684008.1:c.69del ENSP00000507962.1:p.Trp23Ter
ENST00000684190.1:c.69del ENSP00000507554.1:p.Trp23Ter
ENST00000684335.1:c.69del ENSP00000508112.1:p.Trp23Ter
ENST00000262374.10:c.69del MANE Select ENSP00000262374.5:p.Trp23Ter
ENST00000650085.1:n.1013-1033del
ENST00000262374.9:c.69del ENSP00000262374.4:p.Trp23Ter
ENST00000586840.1:c.69del ENSP00000467538.1:p.Trp23Ter
ENST00000588623.5:c.-125-1033del ENSP00000468118.1:n.-125-1033del
ENST00000591822.5:c.69del ENSP00000467865.1:p.Trp23Ter
ENST00000592793.5:n.76del
NM_019109.4:c.69del NP_061982.3:p.Trp23Ter
XR_932882.1:n.110del
XM_017023457.2:c.69del XP_016878946.1:p.Trp23Ter
XM_017023458.1:c.-421del XP_016878947.1:n.-421del
XR_932882.3:n.94del
NM_019109.5:c.69del MANE Select NP_061982.3:p.Trp23Ter
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