Canonical Allele Identifier: CA848697282

Gene: CYP11B2 GML

Linked Data

• dbSNP Id: rs1477178056
• gnomAD v3: 8-142914259-CTG-C
• gnomAD v4: 8-142914259-CTG-C
• MyVariant Identifiers: chr8:g.143995676_143995677del (hg19) ; chr8:g.142914260_142914261del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142914260_142914261del , CM000670.2:g.142914260_142914261del	GRCh38
NC_000008.10:g.143995676_143995677del , CM000670.1:g.143995676_143995677del	GRCh37
NC_000008.9:g.143992678_143992679del	NCBI36
NG_008374.1:g.8583_8584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323110.2:c.954+3_954+4del (CYP11B2) MANE Select	ENSP00000325822.2:n.954+3_954+4del
ENST00000522728.5:c.264+215_264+216del (GML)	ENSP00000430799.1:n.264+215_264+216del
NM_000498.3:c.954+3_954+4del (CYP11B2) MANE Select	NP_000489.3:n.954+3_954+4del
XM_011516877.1:c.1032+3_1032+4del (CYP11B2)	XP_011515179.1:n.1032+3_1032+4del
XM_011516878.1:c.1032+3_1032+4del (CYP11B2)	XP_011515180.1:n.1032+3_1032+4del
XM_011516879.1:c.954+3_954+4del (CYP11B2)	XP_011515181.1:n.954+3_954+4del
XM_011516970.1:c.297+215_297+216del (GML)	XP_011515272.1:n.297+215_297+216del