Canonical Allele Identifier: CA16041553
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 370808
ClinVar RCV Id: RCV000411261
dbSNP Id: rs1057516783
MyVariant Identifiers: chr11:g.71149952del (hg19) chr11:g.71438906del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71438906del , CM000673.2:g.71438906del GRCh38
NC_000011.9:g.71149952del , CM000673.1:g.71149952del GRCh37
NC_000011.8:g.70827600del NCBI36
NG_012655.2:g.14526del , LRG_340:g.14526del

Transcript Alleles

HGVS Amino-acid change
ENST00000525346.6:c.804del ENSP00000435707.3:p.Asn268LysfsTer14
ENST00000526780.6:c.804del ENSP00000435668.2:p.Asn268LysfsTer14
ENST00000527316.6:c.630del ENSP00000435047.2:p.Asn210LysfsTer14
ENST00000682708.1:c.855del ENSP00000506866.1:p.Asn285LysfsTer14
ENST00000682880.1:c.804del ENSP00000507520.1:p.Asn268LysfsTer14
ENST00000683287.1:c.840del ENSP00000507607.1:p.Asn280LysfsTer14
ENST00000683714.1:c.804del ENSP00000508207.1:p.Asn268LysfsTer14
ENST00000684396.1:n.844del
ENST00000685320.1:c.219del ENSP00000509319.1:p.Asn73LysfsTer14
ENST00000690257.1:c.708del ENSP00000510750.1:p.Asn236LysfsTer14
ENST00000355527.8:c.804del MANE Select ENSP00000347717.4:p.Asn268LysfsTer14
ENST00000355527.7:c.804del ENSP00000347717.3:p.Asn268LysfsTer14
ENST00000407721.6:c.804del ENSP00000384739.2:p.Asn268LysfsTer14
ENST00000525137.1:c.171del ENSP00000435956.1:p.Asn57LysfsTer14
ENST00000527316.5:c.708del ENSP00000435047.1:p.Asn236LysfsTer14
ENST00000533800.5:c.54del ENSP00000435011.1:p.Asn18LysfsTer14
ENST00000534701.1:n.299del
ENST00000534795.5:c.160del
NM_001163817.1:c.804del NP_001157289.1:p.Asn268LysfsTer14
NM_001360.2:c.804del , LRG_340t1:c.804del NP_001351.2:p.Asn268LysfsTer14
XM_011544777.1:c.804del XP_011543079.1:p.Asn268LysfsTer14
XM_011544777.2:c.804del XP_011543079.1:p.Asn268LysfsTer14
NM_001163817.2:c.804del NP_001157289.1:p.Asn268LysfsTer14
NM_001360.3:c.804del MANE Select NP_001351.2:p.Asn268LysfsTer14
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