Canonical Allele Identifier: CA2688873538

Gene: CYP11B2 GML

Linked Data

• gnomAD v4: 8-142914712-G-GCCTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142914712_142914713insCCTCA , CM000670.2:g.142914712_142914713insCCTCA	GRCh38
NC_000008.10:g.143996128_143996129insCCTCA , CM000670.1:g.143996128_143996129insCCTCA	GRCh37
NC_000008.9:g.143993130_143993131insCCTCA	NCBI36
NG_008374.1:g.8131_8132insTGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323110.2:c.791_792insTGAGG (CYP11B2) MANE Select	ENSP00000325822.2:p.Gln265GlufsTer?
ENST00000522728.5:c.264+667_264+668insCCTCA (GML)	ENSP00000430799.1:n.264+667_264+668insCCTCA
NM_000498.3:c.791_792insTGAGG (CYP11B2) MANE Select	NP_000489.3:p.Gln265GlufsTer?
XM_011516877.1:c.869_870insTGAGG (CYP11B2)	XP_011515179.1:p.Gln291GlufsTer?
XM_011516878.1:c.869_870insTGAGG (CYP11B2)	XP_011515180.1:p.Gln291GlufsTer?
XM_011516879.1:c.791_792insTGAGG (CYP11B2)	XP_011515181.1:p.Gln265GlufsTer?
XM_011516970.1:c.297+667_297+668insCCTCA (GML)	XP_011515272.1:n.297+667_297+668insCCTCA