Canonical Allele Identifier: CA848694779

Gene: CYP11B2 GML

Linked Data

• dbSNP Id: rs1380875577
• gnomAD v4: 8-142912476-T-TGCAGGTCCCGCCTCTGCTGC
• MyVariant Identifiers: chr8:g.143993892_143993893insGCAGGTCCCGCCTCTGCTGC (hg19) ; chr8:g.142912476_142912477insGCAGGTCCCGCCTCTGCTGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142912477_142912496dup , CM000670.2:g.142912477_142912496dup	GRCh38
NC_000008.10:g.143993893_143993912dup , CM000670.1:g.143993893_143993912dup	GRCh37
NC_000008.9:g.143990895_143990914dup	NCBI36
NG_008374.1:g.10348_10367dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000323110.2:c.1398+34_1398+53dup (CYP11B2) MANE Select	ENSP00000325822.2:n.1398+34_1398+53dup
ENST00000522728.5:c.182-1486_182-1467dup (GML)	ENSP00000430799.1:n.182-1486_182-1467dup
NM_000498.3:c.1398+34_1398+53dup (CYP11B2) MANE Select	NP_000489.3:n.1398+34_1398+53dup
XM_011516877.1:c.1545+34_1545+53dup (CYP11B2)	XP_011515179.1:n.1545+34_1545+53dup
XM_011516878.1:c.1476+34_1476+53dup (CYP11B2)	XP_011515180.1:n.1476+34_1476+53dup
XM_011516879.1:c.1467+34_1467+53dup (CYP11B2)	XP_011515181.1:n.1467+34_1467+53dup
XM_011516970.1:c.215-1486_215-1467dup (GML)	XP_011515272.1:n.215-1486_215-1467dup