Canonical Allele Identifier: CA224325128

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1203714
• ClinVar RCV Id: RCV001569846
• dbSNP Id: rs59663702
• gnomAD v2: 11-71147154-C-CAA
• gnomAD v3: 11-71436108-C-CAA
• gnomAD v4: 11-71436108-C-CAA
• MyVariant Identifiers: chr11:g.71147154_71147155insAA (hg19) ; chr11:g.71436108_71436109insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71436110_71436111dup , CM000673.2:g.71436110_71436111dup	GRCh38
NC_000011.9:g.71147156_71147157dup , CM000673.1:g.71147156_71147157dup	GRCh37
NC_000011.8:g.70824804_70824805dup	NCBI36
NG_012655.2:g.17322_17323dup , LRG_340:g.17322_17323dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.964-271_964-270dup	ENSP00000435707.3:n.964-271_964-270dup
ENST00000526780.6:c.964-271_964-270dup	ENSP00000435668.2:n.964-271_964-270dup
ENST00000527316.6:c.790-271_790-270dup	ENSP00000435047.2:n.790-271_790-270dup
ENST00000682708.1:c.1015-271_1015-270dup	ENSP00000506866.1:n.1015-271_1015-270dup
ENST00000683287.1:c.1000-271_1000-270dup	ENSP00000507607.1:n.1000-271_1000-270dup
ENST00000683714.1:c.972-271_972-270dup	ENSP00000508207.1:n.972-271_972-270dup
ENST00000684396.1:n.1004-271_1004-270dup
ENST00000685320.1:c.379-271_379-270dup	ENSP00000509319.1:n.379-271_379-270dup
ENST00000690257.1:c.868-271_868-270dup	ENSP00000510750.1:n.868-271_868-270dup
ENST00000355527.8:c.964-271_964-270dup MANE Select	ENSP00000347717.4:n.964-271_964-270dup
ENST00000355527.7:c.964-271_964-270dup	ENSP00000347717.3:n.964-271_964-270dup
ENST00000407721.6:c.964-271_964-270dup	ENSP00000384739.2:n.964-271_964-270dup
ENST00000525137.1:c.331-137_331-136dup	ENSP00000435956.1:n.331-137_331-136dup
ENST00000533800.5:c.214-271_214-270dup	ENSP00000435011.1:n.214-271_214-270dup
ENST00000534795.5:c.319+1702_319+1703dup
NM_001163817.1:c.964-271_964-270dup	NP_001157289.1:n.964-271_964-270dup
NM_001360.2:c.964-271_964-270dup , LRG_340t1:c.964-271_964-270dup	NP_001351.2:n.964-271_964-270dup
XM_011544777.1:c.964-137_964-136dup	XP_011543079.1:n.964-137_964-136dup
XM_011544777.2:c.964-137_964-136dup	XP_011543079.1:n.964-137_964-136dup
NM_001163817.2:c.964-271_964-270dup	NP_001157289.1:n.964-271_964-270dup
NM_001360.3:c.964-271_964-270dup MANE Select	NP_001351.2:n.964-271_964-270dup