Canonical Allele Identifier: CA2580084860

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71441414_71441415delinsTG , CM000673.2:g.71441414_71441415delinsTG	GRCh38
NC_000011.9:g.71152460_71152461delinsTG , CM000673.1:g.71152460_71152461delinsTG	GRCh37
NC_000011.8:g.70830108_70830109delinsTG	NCBI36
NG_012655.2:g.12017_12018delinsCA , LRG_340:g.12017_12018delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.438_439delinsCA	ENSP00000435707.3:p.Gly147Ser
ENST00000526780.6:c.438_439delinsCA	ENSP00000435668.2:p.Gly147Ser
ENST00000527316.6:c.264_265delinsCA	ENSP00000435047.2:p.Gly89Ser
ENST00000682708.1:c.438_439delinsCA	ENSP00000506866.1:p.Gly147Ser
ENST00000682880.1:c.438_439delinsCA	ENSP00000507520.1:p.Gly147Ser
ENST00000683287.1:c.474_475delinsCA	ENSP00000507607.1:p.Gly159Ser
ENST00000683714.1:c.438_439delinsCA	ENSP00000508207.1:p.Gly147Ser
ENST00000683874.1:n.715_716delinsCA
ENST00000685320.1:c.-148_-147delinsCA	ENSP00000509319.1:n.-148_-147delinsCA
ENST00000690257.1:c.342_343delinsCA	ENSP00000510750.1:p.Gly115Ser
ENST00000355527.8:c.438_439delinsCA MANE Select	ENSP00000347717.4:p.Gly147Ser
ENST00000355527.7:c.438_439delinsCA	ENSP00000347717.3:p.Gly147Ser
ENST00000407721.6:c.438_439delinsCA	ENSP00000384739.2:p.Gly147Ser
ENST00000526780.5:c.438_439delinsCA	ENSP00000435668.1:p.Gly147Ser
ENST00000527316.5:c.342_343delinsCA	ENSP00000435047.1:p.Gly115Ser
NM_001163817.1:c.438_439delinsCA	NP_001157289.1:p.Gly147Ser
NM_001360.2:c.438_439delinsCA , LRG_340t1:c.438_439delinsCA	NP_001351.2:p.Gly147Ser
XM_011544777.1:c.438_439delinsCA	XP_011543079.1:p.Gly147Ser
XM_011544777.2:c.438_439delinsCA	XP_011543079.1:p.Gly147Ser
NM_001163817.2:c.438_439delinsCA	NP_001157289.1:p.Gly147Ser
NM_001360.3:c.438_439delinsCA MANE Select	NP_001351.2:p.Gly147Ser