Canonical Allele Identifier: CA679811638

Gene: DHCR7

Linked Data

• dbSNP Id: rs1444946426
• gnomAD v4: 11-71435966-GTTCTC-G
• MyVariant Identifiers: chr11:g.71147013_71147017del (hg19) ; chr11:g.71435967_71435971del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435971_71435975del , CM000673.2:g.71435971_71435975del	GRCh38
NC_000011.9:g.71147017_71147021del , CM000673.1:g.71147017_71147021del	GRCh37
NC_000011.8:g.70824665_70824669del	NCBI36
NG_012655.2:g.17461_17465del , LRG_340:g.17461_17465del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.964-132_964-128del	ENSP00000435707.3:n.964-132_964-128del
ENST00000526780.6:c.964-132_964-128del	ENSP00000435668.2:n.964-132_964-128del
ENST00000527316.6:c.790-132_790-128del	ENSP00000435047.2:n.790-132_790-128del
ENST00000682708.1:c.1015-132_1015-128del	ENSP00000506866.1:n.1015-132_1015-128del
ENST00000683287.1:c.1000-132_1000-128del	ENSP00000507607.1:n.1000-132_1000-128del
ENST00000683714.1:c.972-132_972-128del	ENSP00000508207.1:n.972-132_972-128del
ENST00000684396.1:n.1004-132_1004-128del
ENST00000685320.1:c.379-132_379-128del	ENSP00000509319.1:n.379-132_379-128del
ENST00000690257.1:c.868-132_868-128del	ENSP00000510750.1:n.868-132_868-128del
ENST00000355527.8:c.964-132_964-128del MANE Select	ENSP00000347717.4:n.964-132_964-128del
ENST00000355527.7:c.964-132_964-128del	ENSP00000347717.3:n.964-132_964-128del
ENST00000407721.6:c.964-132_964-128del	ENSP00000384739.2:n.964-132_964-128del
ENST00000525137.1:c.333_337del
ENST00000533800.5:c.214-132_214-128del	ENSP00000435011.1:n.214-132_214-128del
ENST00000534795.5:c.319+1841_319+1845del
NM_001163817.1:c.964-132_964-128del	NP_001157289.1:n.964-132_964-128del
NM_001360.2:c.964-132_964-128del , LRG_340t1:c.964-132_964-128del	NP_001351.2:n.964-132_964-128del
XM_011544777.1:c.966_970del
XM_011544777.2:c.966_970del
NM_001163817.2:c.964-132_964-128del	NP_001157289.1:n.964-132_964-128del
NM_001360.3:c.964-132_964-128del MANE Select	NP_001351.2:n.964-132_964-128del