Canonical Allele Identifier: CA2695212797

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437922_71437926dup , CM000673.2:g.71437922_71437926dup	GRCh38
NC_000011.9:g.71148968_71148972dup , CM000673.1:g.71148968_71148972dup	GRCh37
NC_000011.8:g.70826616_70826620dup	NCBI36
NG_012655.2:g.15506_15510dup , LRG_340:g.15506_15510dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.849_853dup	ENSP00000435707.3:p.Phe285SerfsTer10
ENST00000526780.6:c.849_853dup	ENSP00000435668.2:p.Phe285SerfsTer10
ENST00000527316.6:c.675_679dup	ENSP00000435047.2:p.Phe227SerfsTer10
ENST00000682708.1:c.900_904dup	ENSP00000506866.1:p.Phe302SerfsTer10
ENST00000682880.1:c.849_853dup	ENSP00000507520.1:p.Phe285SerfsTer10
ENST00000683287.1:c.885_889dup	ENSP00000507607.1:p.Phe297SerfsTer10
ENST00000683714.1:c.849_853dup	ENSP00000508207.1:p.Phe285SerfsTer10
ENST00000684396.1:n.889_893dup
ENST00000685320.1:c.264_268dup	ENSP00000509319.1:p.Phe90SerfsTer10
ENST00000690257.1:c.753_757dup	ENSP00000510750.1:p.Phe253SerfsTer10
ENST00000355527.8:c.849_853dup MANE Select	ENSP00000347717.4:p.Phe285SerfsTer10
ENST00000355527.7:c.849_853dup	ENSP00000347717.3:p.Phe285SerfsTer10
ENST00000407721.6:c.849_853dup	ENSP00000384739.2:p.Phe285SerfsTer10
ENST00000525137.1:c.216_220dup	ENSP00000435956.1:p.Phe74SerfsTer10
ENST00000527316.5:c.753_757dup	ENSP00000435047.1:p.Phe253SerfsTer?
ENST00000533800.5:c.99_103dup	ENSP00000435011.1:p.Phe35SerfsTer10
ENST00000534795.5:c.205_209dup
NM_001163817.1:c.849_853dup	NP_001157289.1:p.Phe285SerfsTer10
NM_001360.2:c.849_853dup , LRG_340t1:c.849_853dup	NP_001351.2:p.Phe285SerfsTer10
XM_011544777.1:c.849_853dup	XP_011543079.1:p.Phe285SerfsTer10
XM_011544777.2:c.849_853dup	XP_011543079.1:p.Phe285SerfsTer10
NM_001163817.2:c.849_853dup	NP_001157289.1:p.Phe285SerfsTer10
NM_001360.3:c.849_853dup MANE Select	NP_001351.2:p.Phe285SerfsTer10