Canonical Allele Identifier: CA939372181

Gene: DHCR7

Linked Data

• dbSNP Id: rs1949272349
• gnomAD v3: 11-71435755-TGTA-T
• gnomAD v4: 11-71435755-TGTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435760_71435762del , CM000673.2:g.71435760_71435762del	GRCh38
NC_000011.9:g.71146806_71146808del , CM000673.1:g.71146806_71146808del	GRCh37
NC_000011.8:g.70824454_70824456del	NCBI36
NG_012655.2:g.17674_17676del , LRG_340:g.17674_17676del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1045_1047del	ENSP00000435707.3:p.Tyr349del
ENST00000526780.6:c.1045_1047del	ENSP00000435668.2:p.Tyr349del
ENST00000527316.6:c.871_873del	ENSP00000435047.2:p.Tyr291del
ENST00000682708.1:c.1096_1098del	ENSP00000506866.1:p.Tyr366del
ENST00000683287.1:c.1081_1083del	ENSP00000507607.1:p.Tyr361del
ENST00000683714.1:c.1053_1055del	ENSP00000508207.1:p.Thr352del
ENST00000684396.1:n.1085_1087del
ENST00000685320.1:c.460_462del	ENSP00000509319.1:p.Tyr154del
ENST00000690257.1:c.949_951del	ENSP00000510750.1:p.Tyr317del
ENST00000355527.8:c.1045_1047del MANE Select	ENSP00000347717.4:p.Tyr349del
ENST00000355527.7:c.1045_1047del	ENSP00000347717.3:p.Tyr349del
ENST00000407721.6:c.1045_1047del	ENSP00000384739.2:p.Tyr349del
ENST00000525137.1:c.546_548del	ENSP00000435956.1:p.Thr183del
ENST00000533800.5:c.295_297del	ENSP00000435011.1:p.Tyr99del
ENST00000534795.5:c.319+2054_319+2056del
NM_001163817.1:c.1045_1047del	NP_001157289.1:p.Tyr349del
NM_001360.2:c.1045_1047del , LRG_340t1:c.1045_1047del	NP_001351.2:p.Tyr349del
XM_011544777.1:c.1179_1181del	XP_011543079.1:p.Thr394del
XM_011544777.2:c.1179_1181del	XP_011543079.1:p.Thr394del
NM_001163817.2:c.1045_1047del	NP_001157289.1:p.Tyr349del
NM_001360.3:c.1045_1047del MANE Select	NP_001351.2:p.Tyr349del