Canonical Allele Identifier: CA1981490223

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71442300_71442316delinsGTAGCCGGGTAGAAACT , CM000673.2:g.71442300_71442316delinsGTAGCCGGGTAGAAACT	GRCh38
NC_000011.9:g.71153346_71153362delinsGTAGCCGGGTAGAAACT , CM000673.1:g.71153346_71153362delinsGTAGCCGGGTAGAAACT	GRCh37
NC_000011.8:g.70830994_70831010delinsGTAGCCGGGTAGAAACT	NCBI36
NG_012655.2:g.11116_11132delinsAGTTTCTACCCGGCTAC , LRG_340:g.11116_11132delinsAGTTTCTACCCGGCTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.359_375delinsAGTTTCTACCCGGCTAC	ENSP00000435707.3:p.Lys120=
ENST00000526780.6:c.359_375delinsAGTTTCTACCCGGCTAC	ENSP00000435668.2:p.Lys120=
ENST00000527316.6:c.185_201delinsAGTTTCTACCCGGCTAC	ENSP00000435047.2:p.Lys62=
ENST00000682708.1:c.359_375delinsAGTTTCTACCCGGCTAC	ENSP00000506866.1:p.Lys120=
ENST00000682880.1:c.359_375delinsAGTTTCTACCCGGCTAC	ENSP00000507520.1:p.Lys120=
ENST00000683287.1:c.395_411delinsAGTTTCTACCCGGCTAC	ENSP00000507607.1:p.Lys132=
ENST00000683714.1:c.359_375delinsAGTTTCTACCCGGCTAC	ENSP00000508207.1:p.Lys120=
ENST00000683874.1:n.636_652delinsAGTTTCTACCCGGCTAC
ENST00000685320.1:c.-227_-211delinsAGTTTCTACCCGGCTAC	ENSP00000509319.1:n.-227_-211delinsAGTTTCTACCCGGCTAC
ENST00000690257.1:c.263_279delinsAGTTTCTACCCGGCTAC	ENSP00000510750.1:p.Lys88=
ENST00000355527.8:c.359_375delinsAGTTTCTACCCGGCTAC MANE Select	ENSP00000347717.4:p.Lys120=
ENST00000355527.7:c.359_375delinsAGTTTCTACCCGGCTAC	ENSP00000347717.3:p.Lys120=
ENST00000407721.6:c.359_375delinsAGTTTCTACCCGGCTAC	ENSP00000384739.2:p.Lys120=
ENST00000526780.5:c.359_375delinsAGTTTCTACCCGGCTAC	ENSP00000435668.1:p.Lys120=
ENST00000527316.5:c.263_279delinsAGTTTCTACCCGGCTAC	ENSP00000435047.1:p.Lys88=
NM_001163817.1:c.359_375delinsAGTTTCTACCCGGCTAC	NP_001157289.1:p.Lys120=
NM_001360.2:c.359_375delinsAGTTTCTACCCGGCTAC , LRG_340t1:c.359_375delinsAGTTTCTACCCGGCTAC	NP_001351.2:p.Lys120=
XM_011544777.1:c.359_375delinsAGTTTCTACCCGGCTAC	XP_011543079.1:p.Lys120=
XM_011544777.2:c.359_375delinsAGTTTCTACCCGGCTAC	XP_011543079.1:p.Lys120=
NM_001163817.2:c.359_375delinsAGTTTCTACCCGGCTAC	NP_001157289.1:p.Lys120=
NM_001360.3:c.359_375delinsAGTTTCTACCCGGCTAC MANE Select	NP_001351.2:p.Lys120=