Canonical Allele Identifier: CA2614857524

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71435874-T-TGACCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435874_71435875insGACCCC , CM000673.2:g.71435874_71435875insGACCCC	GRCh38
NC_000011.9:g.71146920_71146921insGACCCC , CM000673.1:g.71146920_71146921insGACCCC	GRCh37
NC_000011.8:g.70824568_70824569insGACCCC	NCBI36
NG_012655.2:g.17557_17558insGGGGTC , LRG_340:g.17557_17558insGGGGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.964-36_964-35insGGGGTC	ENSP00000435707.3:n.964-36_964-35insGGGGTC
ENST00000526780.6:c.964-36_964-35insGGGGTC	ENSP00000435668.2:n.964-36_964-35insGGGGTC
ENST00000527316.6:c.790-36_790-35insGGGGTC	ENSP00000435047.2:n.790-36_790-35insGGGGTC
ENST00000682708.1:c.1015-36_1015-35insGGGGTC	ENSP00000506866.1:n.1015-36_1015-35insGGGGTC
ENST00000683287.1:c.1000-36_1000-35insGGGGTC	ENSP00000507607.1:n.1000-36_1000-35insGGGGTC
ENST00000683714.1:c.972-36_972-35insGGGGTC	ENSP00000508207.1:n.972-36_972-35insGGGGTC
ENST00000684396.1:n.1004-36_1004-35insGGGGTC
ENST00000685320.1:c.379-36_379-35insGGGGTC	ENSP00000509319.1:n.379-36_379-35insGGGGTC
ENST00000690257.1:c.868-36_868-35insGGGGTC	ENSP00000510750.1:n.868-36_868-35insGGGGTC
ENST00000355527.8:c.964-36_964-35insGGGGTC MANE Select	ENSP00000347717.4:n.964-36_964-35insGGGGTC
ENST00000355527.7:c.964-36_964-35insGGGGTC	ENSP00000347717.3:n.964-36_964-35insGGGGTC
ENST00000407721.6:c.964-36_964-35insGGGGTC	ENSP00000384739.2:n.964-36_964-35insGGGGTC
ENST00000525137.1:c.429_430insGGGGTC	ENSP00000435956.1:p.Ala143_Lys144insGlyVal
ENST00000533800.5:c.214-36_214-35insGGGGTC	ENSP00000435011.1:n.214-36_214-35insGGGGTC
ENST00000534795.5:c.319+1937_319+1938insGGGGTC
NM_001163817.1:c.964-36_964-35insGGGGTC	NP_001157289.1:n.964-36_964-35insGGGGTC
NM_001360.2:c.964-36_964-35insGGGGTC , LRG_340t1:c.964-36_964-35insGGGGTC	NP_001351.2:n.964-36_964-35insGGGGTC
XM_011544777.1:c.1062_1063insGGGGTC	XP_011543079.1:p.Ala354_Lys355insGlyVal
XM_011544777.2:c.1062_1063insGGGGTC	XP_011543079.1:p.Ala354_Lys355insGlyVal
NM_001163817.2:c.964-36_964-35insGGGGTC	NP_001157289.1:n.964-36_964-35insGGGGTC
NM_001360.3:c.964-36_964-35insGGGGTC MANE Select	NP_001351.2:n.964-36_964-35insGGGGTC