Canonical Allele Identifier: CA16041547
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 370597
ClinVar RCV Id: RCV000411723
dbSNP Id: rs1057516618
MyVariant Identifiers: chr11:g.71146854del (hg19) chr11:g.71435808del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71435808del , CM000673.2:g.71435808del GRCh38
NC_000011.9:g.71146854del , CM000673.1:g.71146854del GRCh37
NC_000011.8:g.70824502del NCBI36
NG_012655.2:g.17624del , LRG_340:g.17624del

Transcript Alleles

HGVS Amino-acid change
ENST00000525346.6:c.995del ENSP00000435707.3:p.Leu332ArgfsTer?
ENST00000526780.6:c.995del ENSP00000435668.2:p.Leu332ArgfsTer?
ENST00000527316.6:c.821del ENSP00000435047.2:p.Leu274ArgfsTer?
ENST00000682708.1:c.1046del ENSP00000506866.1:p.Leu349ArgfsTer?
ENST00000683287.1:c.1031del ENSP00000507607.1:p.Leu344ArgfsTer?
ENST00000683714.1:c.1003del ENSP00000508207.1:p.Cys335ValfsTer?
ENST00000684396.1:n.1035del
ENST00000685320.1:c.410del ENSP00000509319.1:p.Leu137ArgfsTer?
ENST00000690257.1:c.899del ENSP00000510750.1:p.Leu300ArgfsTer?
ENST00000355527.8:c.995del MANE Select ENSP00000347717.4:p.Leu332ArgfsTer?
ENST00000355527.7:c.995del ENSP00000347717.3:p.Leu332ArgfsTer?
ENST00000407721.6:c.995del ENSP00000384739.2:p.Leu332ArgfsTer?
ENST00000525137.1:c.496del ENSP00000435956.1:p.Cys166ValfsTer?
ENST00000533800.5:c.245del ENSP00000435011.1:p.Leu82ArgfsTer?
ENST00000534795.5:c.319+2004del
NM_001163817.1:c.995del NP_001157289.1:p.Leu332ArgfsTer?
NM_001360.2:c.995del , LRG_340t1:c.995del NP_001351.2:p.Leu332ArgfsTer?
XM_011544777.1:c.1129del XP_011543079.1:p.Cys377ValfsTer?
XM_011544777.2:c.1129del XP_011543079.1:p.Cys377ValfsTer?
NM_001163817.2:c.995del NP_001157289.1:p.Leu332ArgfsTer?
NM_001360.3:c.995del MANE Select NP_001351.2:p.Leu332ArgfsTer?
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