Canonical Allele Identifier: CA2574909264

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71442245_71442246del , CM000673.2:g.71442245_71442246del	GRCh38
NC_000011.9:g.71153291_71153292del , CM000673.1:g.71153291_71153292del	GRCh37
NC_000011.8:g.70830939_70830940del	NCBI36
NG_012655.2:g.11187_11188del , LRG_340:g.11187_11188del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.412+18_412+19del	ENSP00000435707.3:n.412+18_412+19del
ENST00000526780.6:c.412+18_412+19del	ENSP00000435668.2:n.412+18_412+19del
ENST00000527316.6:c.238+18_238+19del	ENSP00000435047.2:n.238+18_238+19del
ENST00000682708.1:c.412+18_412+19del	ENSP00000506866.1:n.412+18_412+19del
ENST00000682880.1:c.412+18_412+19del	ENSP00000507520.1:n.412+18_412+19del
ENST00000683287.1:c.448+18_448+19del	ENSP00000507607.1:n.448+18_448+19del
ENST00000683714.1:c.412+18_412+19del	ENSP00000508207.1:n.412+18_412+19del
ENST00000683874.1:n.689+18_689+19del
ENST00000685320.1:c.-174+18_-174+19del	ENSP00000509319.1:n.-174+18_-174+19del
ENST00000690257.1:c.316+18_316+19del	ENSP00000510750.1:n.316+18_316+19del
ENST00000355527.8:c.412+18_412+19del MANE Select	ENSP00000347717.4:n.412+18_412+19del
ENST00000355527.7:c.412+18_412+19del	ENSP00000347717.3:n.412+18_412+19del
ENST00000407721.6:c.412+18_412+19del	ENSP00000384739.2:n.412+18_412+19del
ENST00000526780.5:c.412+18_412+19del	ENSP00000435668.1:n.412+18_412+19del
ENST00000527316.5:c.316+18_316+19del	ENSP00000435047.1:n.316+18_316+19del
NM_001163817.1:c.412+18_412+19del	NP_001157289.1:n.412+18_412+19del
NM_001360.2:c.412+18_412+19del , LRG_340t1:c.412+18_412+19del	NP_001351.2:n.412+18_412+19del
XM_011544777.1:c.412+18_412+19del	XP_011543079.1:n.412+18_412+19del
XM_011544777.2:c.412+18_412+19del	XP_011543079.1:n.412+18_412+19del
NM_001163817.2:c.412+18_412+19del	NP_001157289.1:n.412+18_412+19del
NM_001360.3:c.412+18_412+19del MANE Select	NP_001351.2:n.412+18_412+19del