Canonical Allele Identifier: CA2614858481
Gene: DHCR7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71437914_71437915insATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCC , CM000673.2:g.71437914_71437915insATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCC GRCh38
NC_000011.9:g.71148960_71148961insATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCC , CM000673.1:g.71148960_71148961insATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCC GRCh37
NC_000011.8:g.70826608_70826609insATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCC NCBI36
NG_012655.2:g.15517_15518insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT , LRG_340:g.15517_15518insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000525346.6:c.860_861insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT ENSP00000435707.3:p.Asn287delinsLysAlaGlyArgValThrHisLeuMetTh...
ENST00000526780.6:c.860_861insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT ENSP00000435668.2:p.Asn287delinsLysAlaGlyArgValThrHisLeuMetTh...
ENST00000527316.6:c.686_687insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT ENSP00000435047.2:p.Asn229delinsLysAlaGlyArgValThrHisLeuMetTh...
ENST00000682708.1:c.911_912insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT ENSP00000506866.1:p.Asn304delinsLysAlaGlyArgValThrHisLeuMetTh...
ENST00000682880.1:c.860_861insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT ENSP00000507520.1:p.Asn287delinsLysAlaGlyArgValThrHisLeuMetTh...
ENST00000683287.1:c.896_897insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT ENSP00000507607.1:p.Asn299delinsLysAlaGlyArgValThrHisLeuMetTh...
ENST00000683714.1:c.860_861insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT ENSP00000508207.1:p.Asn287delinsLysAlaGlyArgValThrHisLeuMetTh...
ENST00000684396.1:n.900_901insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT
ENST00000685320.1:c.275_276insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT ENSP00000509319.1:p.Asn92delinsLysAlaGlyArgValThrHisLeuMetThr...
ENST00000690257.1:c.764_765insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT ENSP00000510750.1:p.Asn255delinsLysAlaGlyArgValThrHisLeuMetTh...
ENST00000355527.8:c.860_861insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT MANE Select ENSP00000347717.4:p.Asn287delinsLysAlaGlyArgValThrHisLeuMetTh...
ENST00000355527.7:c.860_861insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT ENSP00000347717.3:p.Asn287delinsLysAlaGlyArgValThrHisLeuMetTh...
ENST00000407721.6:c.860_861insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT ENSP00000384739.2:p.Asn287delinsLysAlaGlyArgValThrHisLeuMetTh...
ENST00000525137.1:c.227_228insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT ENSP00000435956.1:p.Asn76delinsLysAlaGlyArgValThrHisLeuMetThr...
ENST00000527316.5:c.764_765insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT ENSP00000435047.1:p.Asn255delinsLysAlaGlyArgValThrHisLeuMetTh...
ENST00000533800.5:c.110_111insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT ENSP00000435011.1:p.Asn37delinsLysAlaGlyArgValThrHisLeuMetThr...
ENST00000534795.5:c.216_217insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT
NM_001163817.1:c.860_861insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT NP_001157289.1:p.Asn287delinsLysAlaGlyArgValThrHisLeuMetThrTh...
NM_001360.2:c.860_861insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT , LRG_340t1:c.860_861insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT NP_001351.2:p.Asn287delinsLysAlaGlyArgValThrHisLeuMetThrThrTh...
XM_011544777.1:c.860_861insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT XP_011543079.1:p.Asn287delinsLysAlaGlyArgValThrHisLeuMetThrTh...
XM_011544777.2:c.860_861insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT XP_011543079.1:p.Asn287delinsLysAlaGlyArgValThrHisLeuMetThrTh...
NM_001163817.2:c.860_861insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT NP_001157289.1:p.Asn287delinsLysAlaGlyArgValThrHisLeuMetThrTh...
NM_001360.3:c.860_861insGGCAGGTAGAGTTACTCATTTAATGACCACAACAGCCCTCAAGGTTGGTGCTTTTAT MANE Select NP_001351.2:p.Asn287delinsLysAlaGlyArgValThrHisLeuMetThrThrTh...