Canonical Allele Identifier: CA2573142869

Gene: CYP11B2 GML

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142912849_142912850delinsTG , CM000670.2:g.142912849_142912850delinsTG	GRCh38
NC_000008.10:g.143994265_143994266delinsTG , CM000670.1:g.143994265_143994266delinsTG	GRCh37
NC_000008.9:g.143991267_143991268delinsTG	NCBI36
NG_008374.1:g.9994_9995delinsCA

Transcript Alleles

HGVS	Amino-acid Change
NM_000498.3:c.1157_1158delinsCA (CYP11B2) MANE Select	NP_000489.3:p.Val386Ala
ENST00000323110.2:c.1157_1158delinsCA (CYP11B2) MANE Select	ENSP00000325822.2:p.Val386Ala
ENST00000522728.5:c.182-1114_182-1113delinsTG (GML)	ENSP00000430799.1:n.182-1114_182-1113delinsTG
XM_011516877.1:c.1304_1305delinsCA (CYP11B2)	XP_011515179.1:p.Val435Ala
XM_011516878.1:c.1235_1236delinsCA (CYP11B2)	XP_011515180.1:p.Val412Ala
XM_011516879.1:c.1226_1227delinsCA (CYP11B2)	XP_011515181.1:p.Val409Ala
XM_011516970.1:c.215-1114_215-1113delinsTG (GML)	XP_011515272.1:n.215-1114_215-1113delinsTG