Canonical Allele Identifier: CA2529363413

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435548_71435559del , CM000673.2:g.71435548_71435559del	GRCh38
NC_000011.9:g.71146594_71146605del , CM000673.1:g.71146594_71146605del	GRCh37
NC_000011.8:g.70824242_70824253del	NCBI36
NG_012655.2:g.17882_17893del , LRG_340:g.17882_17893del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1253_1264del	ENSP00000435707.3:p.Tyr418_Ala421del
ENST00000526780.6:c.1253_1264del	ENSP00000435668.2:p.Tyr418_Ala421del
ENST00000527316.6:c.1079_1090del	ENSP00000435047.2:p.Tyr360_Ala363del
ENST00000682708.1:c.1304_1315del	ENSP00000506866.1:p.Tyr435_Ala438del
ENST00000683287.1:c.1289_1300del	ENSP00000507607.1:p.Tyr430_Ala433del
ENST00000683714.1:c.*16_*27del	ENSP00000508207.1:n.*16_*27del
ENST00000684396.1:n.1293_1304del
ENST00000685320.1:c.668_679del	ENSP00000509319.1:p.Tyr223_Ala226del
ENST00000690257.1:c.1157_1168del	ENSP00000510750.1:p.Tyr386_Ala389del
ENST00000355527.8:c.1253_1264del MANE Select	ENSP00000347717.4:p.Tyr418_Ala421del
ENST00000355527.7:c.1253_1264del	ENSP00000347717.3:p.Tyr418_Ala421del
ENST00000407721.6:c.1253_1264del	ENSP00000384739.2:p.Tyr418_Ala421del
ENST00000525137.1:c.754_765del	ENSP00000435956.1:n.754_765del
ENST00000533800.5:c.503_514del	ENSP00000435011.1:p.Tyr168_Ala171del
ENST00000534795.5:c.319+2262_319+2273del
NM_001163817.1:c.1253_1264del	NP_001157289.1:p.Tyr418_Ala421del
NM_001360.2:c.1253_1264del , LRG_340t1:c.1253_1264del	NP_001351.2:p.Tyr418_Ala421del
XM_011544777.1:c.*16_*27del	XP_011543079.1:n.*16_*27del
XM_011544777.2:c.*16_*27del	XP_011543079.1:n.*16_*27del
NM_001163817.2:c.1253_1264del	NP_001157289.1:p.Tyr418_Ala421del
NM_001360.3:c.1253_1264del MANE Select	NP_001351.2:p.Tyr418_Ala421del