Canonical Allele Identifier: CA2688873350

Gene: CYP11B2 GML

Linked Data

• gnomAD v4: 8-142914544-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142914547del , CM000670.2:g.142914547del	GRCh38
NC_000008.10:g.143995963del , CM000670.1:g.143995963del	GRCh37
NC_000008.9:g.143992965del	NCBI36
NG_008374.1:g.8299del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323110.2:c.800-127del (CYP11B2) MANE Select	ENSP00000325822.2:n.800-127del
ENST00000522728.5:c.264+502del (GML)	ENSP00000430799.1:n.264+502del
NM_000498.3:c.800-127del (CYP11B2) MANE Select	NP_000489.3:n.800-127del
XM_011516877.1:c.878-127del (CYP11B2)	XP_011515179.1:n.878-127del
XM_011516878.1:c.878-127del (CYP11B2)	XP_011515180.1:n.878-127del
XM_011516879.1:c.800-127del (CYP11B2)	XP_011515181.1:n.800-127del
XM_011516970.1:c.297+502del (GML)	XP_011515272.1:n.297+502del