Canonical Allele Identifier: CA6162234

Gene: DHCR7

Linked Data

• dbSNP Id: rs762999231
• ExAC: 11:71146440 A / AGGCGGTAAGGCACTGC
• gnomAD v2: 11-71146440-A-AGGCGGTAAGGCACTGC
• gnomAD v4: 11-71435394-A-AGGCGGTAAGGCACTGC
• MyVariant Identifiers: chr11:g.71146440_71146441insGGCGGTAAGGCACTGC (hg19) ; chr11:g.71435394_71435395insGGCGGTAAGGCACTGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435401_71435416dup , CM000673.2:g.71435401_71435416dup	GRCh38
NC_000011.9:g.71146447_71146462dup , CM000673.1:g.71146447_71146462dup	GRCh37
NC_000011.8:g.70824095_70824110dup	NCBI36
NG_012655.2:g.18022_18037dup , LRG_340:g.18022_18037dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1393_1408dup	ENSP00000435707.3:p.Leu470ArgfsTer?
ENST00000526780.6:c.1393_1408dup	ENSP00000435668.2:p.Leu470ArgfsTer?
ENST00000527316.6:c.1219_1234dup	ENSP00000435047.2:p.Leu412ArgfsTer?
ENST00000682708.1:c.1444_1459dup	ENSP00000506866.1:p.Leu487ArgfsTer?
ENST00000683287.1:c.1429_1444dup	ENSP00000507607.1:p.Leu482ArgfsTer?
ENST00000683714.1:c.*156_*171dup	ENSP00000508207.1:n.*156_*171dup
ENST00000684396.1:n.1433_1448dup
ENST00000685320.1:c.808_823dup	ENSP00000509319.1:p.Leu275ArgfsTer?
ENST00000690257.1:c.1297_1312dup	ENSP00000510750.1:p.Leu438ArgfsTer?
ENST00000355527.8:c.1393_1408dup MANE Select	ENSP00000347717.4:p.Leu470ArgfsTer?
ENST00000355527.7:c.1393_1408dup	ENSP00000347717.3:p.Leu470ArgfsTer?
ENST00000407721.6:c.1393_1408dup	ENSP00000384739.2:p.Leu470ArgfsTer?
ENST00000525137.1:c.894_909dup	ENSP00000435956.1:n.894_909dup
ENST00000533800.5:c.611+32_611+47dup	ENSP00000435011.1:n.611+32_611+47dup
ENST00000534795.5:c.319+2402_319+2417dup
NM_001163817.1:c.1393_1408dup	NP_001157289.1:p.Leu470ArgfsTer?
NM_001360.2:c.1393_1408dup , LRG_340t1:c.1393_1408dup	NP_001351.2:p.Leu470ArgfsTer?
XM_011544777.1:c.*156_*171dup	XP_011543079.1:n.*156_*171dup
XM_011544777.2:c.*156_*171dup	XP_011543079.1:n.*156_*171dup
NM_001163817.2:c.1393_1408dup	NP_001157289.1:p.Leu470ArgfsTer?
NM_001360.3:c.1393_1408dup MANE Select	NP_001351.2:p.Leu470ArgfsTer?