Canonical Allele Identifier: CA600051638

Gene: DHCR7

Linked Data

• dbSNP Id: rs1220097924
• gnomAD v2: 11-71147940-GTAAGAGCTAT-G
• gnomAD v3: 11-71436894-GTAAGAGCTAT-G
• gnomAD v4: 11-71436894-GTAAGAGCTAT-G
• MyVariant Identifiers: chr11:g.71147941_71147950del (hg19) ; chr11:g.71436895_71436904del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71436897_71436906del , CM000673.2:g.71436897_71436906del	GRCh38
NC_000011.9:g.71147943_71147952del , CM000673.1:g.71147943_71147952del	GRCh37
NC_000011.8:g.70825591_70825600del	NCBI36
NG_012655.2:g.16528_16537del , LRG_340:g.16528_16537del

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.963+908_963+917del	ENSP00000435707.3:n.963+908_963+917del
ENST00000526780.6:c.963+908_963+917del	ENSP00000435668.2:n.963+908_963+917del
ENST00000527316.6:c.789+908_789+917del	ENSP00000435047.2:n.789+908_789+917del
ENST00000682708.1:c.1014+908_1014+917del	ENSP00000506866.1:n.1014+908_1014+917del
ENST00000682880.1:c.*770_*779del	ENSP00000507520.1:n.*770_*779del
ENST00000683287.1:c.999+908_999+917del	ENSP00000507607.1:n.999+908_999+917del
ENST00000683714.1:c.971+900_971+909del	ENSP00000508207.1:n.971+900_971+909del
ENST00000684396.1:n.1003+908_1003+917del
ENST00000685320.1:c.378+908_378+917del	ENSP00000509319.1:n.378+908_378+917del
ENST00000690257.1:c.867+908_867+917del	ENSP00000510750.1:n.867+908_867+917del
ENST00000355527.8:c.963+908_963+917del MANE Select	ENSP00000347717.4:n.963+908_963+917del
ENST00000355527.7:c.963+908_963+917del	ENSP00000347717.3:n.963+908_963+917del
ENST00000407721.6:c.963+908_963+917del	ENSP00000384739.2:n.963+908_963+917del
ENST00000525137.1:c.330+908_330+917del	ENSP00000435956.1:n.330+908_330+917del
ENST00000533800.5:c.213+908_213+917del	ENSP00000435011.1:n.213+908_213+917del
ENST00000534795.5:c.319+908_319+917del
NM_001163817.1:c.963+908_963+917del	NP_001157289.1:n.963+908_963+917del
NM_001360.2:c.963+908_963+917del , LRG_340t1:c.963+908_963+917del	NP_001351.2:n.963+908_963+917del
XM_011544777.1:c.963+908_963+917del	XP_011543079.1:n.963+908_963+917del
XM_011544777.2:c.963+908_963+917del	XP_011543079.1:n.963+908_963+917del
NM_001163817.2:c.963+908_963+917del	NP_001157289.1:n.963+908_963+917del
NM_001360.3:c.963+908_963+917del MANE Select	NP_001351.2:n.963+908_963+917del