Canonical Allele Identifier: CA2839231215

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435528dup , CM000673.2:g.71435528dup	GRCh38
NC_000011.9:g.71146574dup , CM000673.1:g.71146574dup	GRCh37
NC_000011.8:g.70824222dup	NCBI36
NG_012655.2:g.17905dup , LRG_340:g.17905dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1276dup	ENSP00000435707.3:p.His426ProfsTer?
ENST00000526780.6:c.1276dup	ENSP00000435668.2:p.His426ProfsTer?
ENST00000527316.6:c.1102dup	ENSP00000435047.2:p.His368ProfsTer?
ENST00000682708.1:c.1327dup	ENSP00000506866.1:p.His443ProfsTer?
ENST00000683287.1:c.1312dup	ENSP00000507607.1:p.His438ProfsTer?
ENST00000683714.1:c.*39dup	ENSP00000508207.1:n.*39dup
ENST00000684396.1:n.1316dup
ENST00000685320.1:c.691dup	ENSP00000509319.1:p.His231ProfsTer?
ENST00000690257.1:c.1180dup	ENSP00000510750.1:p.His394ProfsTer?
ENST00000355527.8:c.1276dup MANE Select	ENSP00000347717.4:p.His426ProfsTer?
ENST00000355527.7:c.1276dup	ENSP00000347717.3:p.His426ProfsTer?
ENST00000407721.6:c.1276dup	ENSP00000384739.2:p.His426ProfsTer?
ENST00000525137.1:c.777dup	ENSP00000435956.1:n.777dup
ENST00000533800.5:c.526dup	ENSP00000435011.1:p.His176ProfsTer?
ENST00000534795.5:c.319+2285dup
NM_001163817.1:c.1276dup	NP_001157289.1:p.His426ProfsTer?
NM_001360.2:c.1276dup , LRG_340t1:c.1276dup	NP_001351.2:p.His426ProfsTer?
XM_011544777.1:c.*39dup	XP_011543079.1:n.*39dup
XM_011544777.2:c.*39dup	XP_011543079.1:n.*39dup
NM_001163817.2:c.1276dup	NP_001157289.1:p.His426ProfsTer?
NM_001360.3:c.1276dup MANE Select	NP_001351.2:p.His426ProfsTer?