Canonical Allele Identifier: CA585726837

Gene: CYP11B1 GML

Linked Data

• dbSNP Id: rs1418523432
• gnomAD v2: 8-143957394-C-CAT
• gnomAD v4: 8-142875978-C-CAT
• MyVariant Identifiers: chr8:g.143957394_143957395insAT (hg19) ; chr8:g.142875978_142875979insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875980_142875981dup , CM000670.2:g.142875980_142875981dup	GRCh38
NC_000008.10:g.143957396_143957397dup , CM000670.1:g.143957396_143957397dup	GRCh37
NC_000008.9:g.143954398_143954399dup	NCBI36
NG_007954.1:g.8841_8842dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.955-102_955-101dup (CYP11B1) MANE Select	ENSP00000292427.5:n.955-102_955-101dup
ENST00000292427.8:c.955-102_955-101dup (CYP11B1)	ENSP00000292427.4:n.955-102_955-101dup
ENST00000314111.4:n.1248_1249dup (CYP11B1)
ENST00000377675.3:c.1168-102_1168-101dup (CYP11B1)	ENSP00000366903.3:n.1168-102_1168-101dup
ENST00000517471.5:c.955-102_955-101dup (CYP11B1)	ENSP00000428043.1:n.955-102_955-101dup
ENST00000522728.5:c.181+34755_181+34756dup (GML)	ENSP00000430799.1:n.181+34755_181+34756dup
NM_000497.3:c.955-102_955-101dup (CYP11B1)	NP_000488.3:n.955-102_955-101dup
NM_001026213.1:c.955-102_955-101dup (CYP11B1)	NP_001021384.1:n.955-102_955-101dup
XM_011516870.1:c.1033-102_1033-101dup (CYP11B1)	XP_011515172.1:n.1033-102_1033-101dup
XM_011516871.1:c.1033-102_1033-101dup (CYP11B1)	XP_011515173.1:n.1033-102_1033-101dup
XM_011516872.1:c.955-102_955-101dup (CYP11B1)	XP_011515174.1:n.955-102_955-101dup
XM_011516873.1:c.1033-102_1033-101dup (CYP11B1)	XP_011515175.1:n.1033-102_1033-101dup
XM_011516874.1:c.1033-102_1033-101dup (CYP11B1)	XP_011515176.1:n.1033-102_1033-101dup
XM_011516875.1:c.772-102_772-101dup (CYP11B1)	XP_011515177.1:n.772-102_772-101dup
XM_011516876.1:c.1033-102_1033-101dup (CYP11B1)	XP_011515178.1:n.1033-102_1033-101dup
XM_011516970.1:c.214+34755_214+34756dup (GML)	XP_011515272.1:n.214+34755_214+34756dup
NM_000497.4:c.955-102_955-101dup (CYP11B1) MANE Select	NP_000488.3:n.955-102_955-101dup