Canonical Allele Identifier: CA2614857486

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71435862-T-TCA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435863_71435864dup , CM000673.2:g.71435863_71435864dup	GRCh38
NC_000011.9:g.71146909_71146910dup , CM000673.1:g.71146909_71146910dup	GRCh37
NC_000011.8:g.70824557_70824558dup	NCBI36
NG_012655.2:g.17568_17569dup , LRG_340:g.17568_17569dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.964-25_964-24dup	ENSP00000435707.3:n.964-25_964-24dup
ENST00000526780.6:c.964-25_964-24dup	ENSP00000435668.2:n.964-25_964-24dup
ENST00000527316.6:c.790-25_790-24dup	ENSP00000435047.2:n.790-25_790-24dup
ENST00000682708.1:c.1015-25_1015-24dup	ENSP00000506866.1:n.1015-25_1015-24dup
ENST00000683287.1:c.1000-25_1000-24dup	ENSP00000507607.1:n.1000-25_1000-24dup
ENST00000683714.1:c.972-25_972-24dup	ENSP00000508207.1:n.972-25_972-24dup
ENST00000684396.1:n.1004-25_1004-24dup
ENST00000685320.1:c.379-25_379-24dup	ENSP00000509319.1:n.379-25_379-24dup
ENST00000690257.1:c.868-25_868-24dup	ENSP00000510750.1:n.868-25_868-24dup
ENST00000355527.8:c.964-25_964-24dup MANE Select	ENSP00000347717.4:n.964-25_964-24dup
ENST00000355527.7:c.964-25_964-24dup	ENSP00000347717.3:n.964-25_964-24dup
ENST00000407721.6:c.964-25_964-24dup	ENSP00000384739.2:n.964-25_964-24dup
ENST00000525137.1:c.440_441dup	ENSP00000435956.1:p.Thr148Ter
ENST00000533800.5:c.214-25_214-24dup	ENSP00000435011.1:n.214-25_214-24dup
ENST00000534795.5:c.319+1948_319+1949dup
NM_001163817.1:c.964-25_964-24dup	NP_001157289.1:n.964-25_964-24dup
NM_001360.2:c.964-25_964-24dup , LRG_340t1:c.964-25_964-24dup	NP_001351.2:n.964-25_964-24dup
XM_011544777.1:c.1073_1074dup	XP_011543079.1:p.Thr359Ter
XM_011544777.2:c.1073_1074dup	XP_011543079.1:p.Thr359Ter
NM_001163817.2:c.964-25_964-24dup	NP_001157289.1:n.964-25_964-24dup
NM_001360.3:c.964-25_964-24dup MANE Select	NP_001351.2:n.964-25_964-24dup