Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875672_142875673delinsAG , CM000670.2:g.142875672_142875673delinsAG	GRCh38
NC_000008.10:g.143957088_143957089delinsAG , CM000670.1:g.143957088_143957089delinsAG	GRCh37
NC_000008.9:g.143954090_143954091delinsAG	NCBI36
NG_007954.1:g.9148_9149delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1121+39_1121+40delinsCT (CYP11B1) MANE Select	ENSP00000292427.5:n.1121+39_1121+40delinsCT
ENST00000292427.8:c.1121+39_1121+40delinsCT (CYP11B1)	ENSP00000292427.4:n.1121+39_1121+40delinsCT
ENST00000314111.4:n.1516+39_1516+40delinsCT (CYP11B1)
ENST00000377675.3:c.1334+39_1334+40delinsCT (CYP11B1)	ENSP00000366903.3:n.1334+39_1334+40delinsCT
ENST00000517471.5:c.1121+39_1121+40delinsCT (CYP11B1)	ENSP00000428043.1:n.1121+39_1121+40delinsCT
ENST00000519285.5:c.86+39_86+40delinsCT (CYP11B1)	ENSP00000430144.1:n.86+39_86+40delinsCT
ENST00000522728.5:c.181+34447_181+34448delinsAG (GML)	ENSP00000430799.1:n.181+34447_181+34448delinsAG
NM_000497.3:c.1121+39_1121+40delinsCT (CYP11B1)	NP_000488.3:n.1121+39_1121+40delinsCT
NM_001026213.1:c.1121+39_1121+40delinsCT (CYP11B1)	NP_001021384.1:n.1121+39_1121+40delinsCT
XM_011516870.1:c.1199+39_1199+40delinsCT (CYP11B1)	XP_011515172.1:n.1199+39_1199+40delinsCT
XM_011516871.1:c.1199+39_1199+40delinsCT (CYP11B1)	XP_011515173.1:n.1199+39_1199+40delinsCT
XM_011516872.1:c.1121+39_1121+40delinsCT (CYP11B1)	XP_011515174.1:n.1121+39_1121+40delinsCT
XM_011516873.1:c.1199+39_1199+40delinsCT (CYP11B1)	XP_011515175.1:n.1199+39_1199+40delinsCT
XM_011516874.1:c.1199+39_1199+40delinsCT (CYP11B1)	XP_011515176.1:n.1199+39_1199+40delinsCT
XM_011516875.1:c.938+39_938+40delinsCT (CYP11B1)	XP_011515177.1:n.938+39_938+40delinsCT
XM_011516876.1:c.1199+39_1199+40delinsCT (CYP11B1)	XP_011515178.1:n.1199+39_1199+40delinsCT
XM_011516970.1:c.214+34447_214+34448delinsAG (GML)	XP_011515272.1:n.214+34447_214+34448delinsAG
NM_000497.4:c.1121+39_1121+40delinsCT (CYP11B1) MANE Select	NP_000488.3:n.1121+39_1121+40delinsCT