Canonical Allele Identifier: CA6162257

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435469_71435471dup , CM000673.2:g.71435469_71435471dup	GRCh38
NC_000011.9:g.71146515_71146517dup , CM000673.1:g.71146515_71146517dup	GRCh37
NC_000011.8:g.70824163_70824165dup	NCBI36
NG_012655.2:g.17963_17965dup , LRG_340:g.17963_17965dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001360.3:c.1334_1336dup MANE Select	NP_001351.2:p.Leu445_Arg446insLeu
ENST00000355527.8:c.1334_1336dup MANE Select	ENSP00000347717.4:p.Leu445_Arg446insLeu
NM_001163817.1:c.1334_1336dup	NP_001157289.1:p.Leu445_Arg446insLeu
NM_001163817.2:c.1334_1336dup	NP_001157289.1:p.Leu445_Arg446insLeu
NM_001360.2:c.1334_1336dup , LRG_340t1:c.1334_1336dup	NP_001351.2:p.Leu445_Arg446insLeu
ENST00000355527.7:c.1334_1336dup	ENSP00000347717.3:p.Leu445_Arg446insLeu
ENST00000407721.6:c.1334_1336dup	ENSP00000384739.2:p.Leu445_Arg446insLeu
ENST00000525137.1:c.835_837dup	ENSP00000435956.1:n.835_837dup
ENST00000525346.6:c.1334_1336dup	ENSP00000435707.3:p.Leu445_Arg446insLeu
ENST00000526780.6:c.1334_1336dup	ENSP00000435668.2:p.Leu445_Arg446insLeu
ENST00000527316.6:c.1160_1162dup	ENSP00000435047.2:p.Leu387_Arg388insLeu
ENST00000533800.5:c.584_586dup	ENSP00000435011.1:p.Leu195_Arg196insLeu
ENST00000534795.5:c.319+2343_319+2345dup
ENST00000682708.1:c.1385_1387dup	ENSP00000506866.1:p.Leu462_Arg463insLeu
ENST00000683287.1:c.1370_1372dup	ENSP00000507607.1:p.Leu457_Arg458insLeu
ENST00000683714.1:c.*97_*99dup	ENSP00000508207.1:n.*97_*99dup
ENST00000684396.1:n.1374_1376dup
ENST00000685320.1:c.749_751dup	ENSP00000509319.1:p.Leu250_Arg251insLeu
ENST00000690257.1:c.1238_1240dup	ENSP00000510750.1:p.Leu413_Arg414insLeu
XM_011544777.1:c.*97_*99dup	XP_011543079.1:n.*97_*99dup
XM_011544777.2:c.*97_*99dup	XP_011543079.1:n.*97_*99dup