Canonical Allele Identifier: CA1981487553

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71436894_71436904delinsGTAAGAGCTAT , CM000673.2:g.71436894_71436904delinsGTAAGAGCTAT	GRCh38
NC_000011.9:g.71147940_71147950delinsGTAAGAGCTAT , CM000673.1:g.71147940_71147950delinsGTAAGAGCTAT	GRCh37
NC_000011.8:g.70825588_70825598delinsGTAAGAGCTAT	NCBI36
NG_012655.2:g.16528_16538delinsATAGCTCTTAC , LRG_340:g.16528_16538delinsATAGCTCTTAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.963+908_963+918delinsATAGCTCTTAC	ENSP00000435707.3:n.963+908_963+918delins...
ENST00000526780.6:c.963+908_963+918delinsATAGCTCTTAC	ENSP00000435668.2:n.963+908_963+918delins...
ENST00000527316.6:c.789+908_789+918delinsATAGCTCTTAC	ENSP00000435047.2:n.789+908_789+918delins...
ENST00000682708.1:c.1014+908_1014+918delinsATAGCTCTTAC	ENSP00000506866.1:n.1014+908_1014+918deli...
ENST00000682880.1:c.*770_*780delinsATAGCTCTTAC	ENSP00000507520.1:n.*770_*780delinsATAGCT...
ENST00000683287.1:c.999+908_999+918delinsATAGCTCTTAC	ENSP00000507607.1:n.999+908_999+918delins...
ENST00000683714.1:c.971+900_971+910delinsATAGCTCTTAC	ENSP00000508207.1:n.971+900_971+910delins...
ENST00000684396.1:n.1003+908_1003+918delinsATAGCTCTTAC
ENST00000685320.1:c.378+908_378+918delinsATAGCTCTTAC	ENSP00000509319.1:n.378+908_378+918delins...
ENST00000690257.1:c.867+908_867+918delinsATAGCTCTTAC	ENSP00000510750.1:n.867+908_867+918delins...
ENST00000355527.8:c.963+908_963+918delinsATAGCTCTTAC MANE Select	ENSP00000347717.4:n.963+908_963+918delins...
ENST00000355527.7:c.963+908_963+918delinsATAGCTCTTAC	ENSP00000347717.3:n.963+908_963+918delins...
ENST00000407721.6:c.963+908_963+918delinsATAGCTCTTAC	ENSP00000384739.2:n.963+908_963+918delins...
ENST00000525137.1:c.330+908_330+918delinsATAGCTCTTAC	ENSP00000435956.1:n.330+908_330+918delins...
ENST00000533800.5:c.213+908_213+918delinsATAGCTCTTAC	ENSP00000435011.1:n.213+908_213+918delins...
ENST00000534795.5:c.319+908_319+918delinsATAGCTCTTAC
NM_001163817.1:c.963+908_963+918delinsATAGCTCTTAC	NP_001157289.1:n.963+908_963+918delinsATA...
NM_001360.2:c.963+908_963+918delinsATAGCTCTTAC , LRG_340t1:c.963+908_963+918delinsATAGCTCTTAC	NP_001351.2:n.963+908_963+918delinsATAGCT...
XM_011544777.1:c.963+908_963+918delinsATAGCTCTTAC	XP_011543079.1:n.963+908_963+918delinsATA...
XM_011544777.2:c.963+908_963+918delinsATAGCTCTTAC	XP_011543079.1:n.963+908_963+918delinsATA...
NM_001163817.2:c.963+908_963+918delinsATAGCTCTTAC	NP_001157289.1:n.963+908_963+918delinsATA...
NM_001360.3:c.963+908_963+918delinsATAGCTCTTAC MANE Select	NP_001351.2:n.963+908_963+918delinsATAGCT...