Canonical Allele Identifier: CA2688873539

Gene: CYP11B2 GML

Linked Data

• gnomAD v4: 8-142914738-GCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142914741_142914743del , CM000670.2:g.142914741_142914743del	GRCh38
NC_000008.10:g.143996157_143996159del , CM000670.1:g.143996157_143996159del	GRCh37
NC_000008.9:g.143993159_143993161del	NCBI36
NG_008374.1:g.8103_8105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323110.2:c.763_765del (CYP11B2) MANE Select	ENSP00000325822.2:p.Glu255del
ENST00000522728.5:c.264+696_264+698del (GML)	ENSP00000430799.1:n.264+696_264+698del
NM_000498.3:c.763_765del (CYP11B2) MANE Select	NP_000489.3:p.Glu255del
XM_011516877.1:c.841_843del (CYP11B2)	XP_011515179.1:p.Glu281del
XM_011516878.1:c.841_843del (CYP11B2)	XP_011515180.1:p.Glu281del
XM_011516879.1:c.763_765del (CYP11B2)	XP_011515181.1:p.Glu255del
XM_011516970.1:c.297+696_297+698del (GML)	XP_011515272.1:n.297+696_297+698del