Canonical Allele Identifier: CA912973040

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71148946_71148947del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437900_71437901del , CM000673.2:g.71437900_71437901del	GRCh38
NC_000011.9:g.71148946_71148947del , CM000673.1:g.71148946_71148947del	GRCh37
NC_000011.8:g.70826594_70826595del	NCBI36
NG_012655.2:g.15531_15532del , LRG_340:g.15531_15532del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.874_875del	ENSP00000435707.3:p.Leu292GlufsTer4
ENST00000526780.6:c.874_875del	ENSP00000435668.2:p.Leu292GlufsTer4
ENST00000527316.6:c.700_701del	ENSP00000435047.2:p.Leu234GlufsTer4
ENST00000682708.1:c.925_926del	ENSP00000506866.1:p.Leu309GlufsTer4
ENST00000682880.1:c.874_875del	ENSP00000507520.1:p.Leu292GlufsTer4
ENST00000683287.1:c.910_911del	ENSP00000507607.1:p.Leu304GlufsTer4
ENST00000683714.1:c.874_875del	ENSP00000508207.1:p.Leu292GlufsTer4
ENST00000684396.1:n.914_915del
ENST00000685320.1:c.289_290del	ENSP00000509319.1:p.Leu97GlufsTer4
ENST00000690257.1:c.778_779del	ENSP00000510750.1:p.Leu260GlufsTer4
ENST00000355527.8:c.874_875del MANE Select	ENSP00000347717.4:p.Leu292GlufsTer4
ENST00000355527.7:c.874_875del	ENSP00000347717.3:p.Leu292GlufsTer4
ENST00000407721.6:c.874_875del	ENSP00000384739.2:p.Leu292GlufsTer4
ENST00000525137.1:c.241_242del	ENSP00000435956.1:p.Leu81GlufsTer4
ENST00000533800.5:c.124_125del	ENSP00000435011.1:p.Leu42GlufsTer4
ENST00000534795.5:c.230_231del
NM_001163817.1:c.874_875del	NP_001157289.1:p.Leu292GlufsTer4
NM_001360.2:c.874_875del , LRG_340t1:c.874_875del	NP_001351.2:p.Leu292GlufsTer4
XM_011544777.1:c.874_875del	XP_011543079.1:p.Leu292GlufsTer4
XM_011544777.2:c.874_875del	XP_011543079.1:p.Leu292GlufsTer4
NM_001163817.2:c.874_875del	NP_001157289.1:p.Leu292GlufsTer4
NM_001360.3:c.874_875del MANE Select	NP_001351.2:p.Leu292GlufsTer4