Canonical Allele Identifier: CA679812014

Gene: DHCR7

Linked Data

• dbSNP Id: rs1289634565
• MyVariant Identifiers: chr11:g.71147898_71147899insA (hg19) ; chr11:g.71436852_71436853insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71436858dup , CM000673.2:g.71436858dup	GRCh38
NC_000011.9:g.71147904dup , CM000673.1:g.71147904dup	GRCh37
NC_000011.8:g.70825552dup	NCBI36
NG_012655.2:g.16579dup , LRG_340:g.16579dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.963+959dup	ENSP00000435707.3:n.963+959dup
ENST00000526780.6:c.963+959dup	ENSP00000435668.2:n.963+959dup
ENST00000527316.6:c.789+959dup	ENSP00000435047.2:n.789+959dup
ENST00000682708.1:c.1014+959dup	ENSP00000506866.1:n.1014+959dup
ENST00000682880.1:c.*821dup	ENSP00000507520.1:n.*821dup
ENST00000683287.1:c.999+959dup	ENSP00000507607.1:n.999+959dup
ENST00000683714.1:c.971+951dup	ENSP00000508207.1:n.971+951dup
ENST00000684396.1:n.1003+959dup
ENST00000685320.1:c.378+959dup	ENSP00000509319.1:n.378+959dup
ENST00000690257.1:c.867+959dup	ENSP00000510750.1:n.867+959dup
ENST00000355527.8:c.963+959dup MANE Select	ENSP00000347717.4:n.963+959dup
ENST00000355527.7:c.963+959dup	ENSP00000347717.3:n.963+959dup
ENST00000407721.6:c.963+959dup	ENSP00000384739.2:n.963+959dup
ENST00000525137.1:c.331-880dup	ENSP00000435956.1:n.331-880dup
ENST00000533800.5:c.213+959dup	ENSP00000435011.1:n.213+959dup
ENST00000534795.5:c.319+959dup
NM_001163817.1:c.963+959dup	NP_001157289.1:n.963+959dup
NM_001360.2:c.963+959dup , LRG_340t1:c.963+959dup	NP_001351.2:n.963+959dup
XM_011544777.1:c.964-880dup	XP_011543079.1:n.964-880dup
XM_011544777.2:c.964-880dup	XP_011543079.1:n.964-880dup
NM_001163817.2:c.963+959dup	NP_001157289.1:n.963+959dup
NM_001360.3:c.963+959dup MANE Select	NP_001351.2:n.963+959dup