Canonical Allele Identifier: CA1120117573

Gene: CYP11B1 GML

Linked Data

• dbSNP Id: rs1816939267
• gnomAD v3: 8-142876125-TGTGGGGCCCATAGCCTGGGGATGGGACACGTGGGCGCC-T
• gnomAD v4: 8-142876125-TGTGGGGCCCATAGCCTGGGGATGGGACACGTGGGCGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142876129_142876166del , CM000670.2:g.142876129_142876166del	GRCh38
NC_000008.10:g.143957545_143957582del , CM000670.1:g.143957545_143957582del	GRCh37
NC_000008.9:g.143954547_143954584del	NCBI36
NG_007954.1:g.8658_8695del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.954+78_954+115del (CYP11B1) MANE Select	ENSP00000292427.5:n.954+78_954+115del
ENST00000292427.8:c.954+78_954+115del (CYP11B1)	ENSP00000292427.4:n.954+78_954+115del
ENST00000314111.4:n.1065_1102del (CYP11B1)
ENST00000377675.3:c.1167+78_1167+115del (CYP11B1)	ENSP00000366903.3:n.1167+78_1167+115del
ENST00000517471.5:c.954+78_954+115del (CYP11B1)	ENSP00000428043.1:n.954+78_954+115del
ENST00000522728.5:c.181+34904_181+34941del (GML)	ENSP00000430799.1:n.181+34904_181+34941del
NM_000497.3:c.954+78_954+115del (CYP11B1)	NP_000488.3:n.954+78_954+115del
NM_001026213.1:c.954+78_954+115del (CYP11B1)	NP_001021384.1:n.954+78_954+115del
XM_011516870.1:c.1032+78_1032+115del (CYP11B1)	XP_011515172.1:n.1032+78_1032+115del
XM_011516871.1:c.1032+78_1032+115del (CYP11B1)	XP_011515173.1:n.1032+78_1032+115del
XM_011516872.1:c.954+78_954+115del (CYP11B1)	XP_011515174.1:n.954+78_954+115del
XM_011516873.1:c.1032+78_1032+115del (CYP11B1)	XP_011515175.1:n.1032+78_1032+115del
XM_011516874.1:c.1032+78_1032+115del (CYP11B1)	XP_011515176.1:n.1032+78_1032+115del
XM_011516875.1:c.771+78_771+115del (CYP11B1)	XP_011515177.1:n.771+78_771+115del
XM_011516876.1:c.1032+78_1032+115del (CYP11B1)	XP_011515178.1:n.1032+78_1032+115del
XM_011516970.1:c.214+34904_214+34941del (GML)	XP_011515272.1:n.214+34904_214+34941del
NM_000497.4:c.954+78_954+115del (CYP11B1) MANE Select	NP_000488.3:n.954+78_954+115del