Canonical Allele Identifier: CA4905078

Gene: CYP11B1 GML

Linked Data

• dbSNP Id: rs752865698
• ExAC: 8:143956635 GTGGGGCTCACTCACCCCAGC / G
• gnomAD v2: 8-143956635-GTGGGGCTCACTCACCCCAGC-G
• gnomAD v4: 8-142875219-GTGGGGCTCACTCACCCCAGC-G
• MyVariant Identifiers: chr8:g.143956636_143956655del (hg19) ; chr8:g.142875220_142875239del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875224_142875243del , CM000670.2:g.142875224_142875243del	GRCh38
NC_000008.10:g.143956640_143956659del , CM000670.1:g.143956640_143956659del	GRCh37
NC_000008.9:g.143953642_143953661del	NCBI36
NG_007954.1:g.9582_9601del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1195_1200+14del (CYP11B1)
ENST00000292427.8:c.1195_1200+14del (CYP11B1)
ENST00000314111.4:n.1590_1595+14del (CYP11B1)
ENST00000377675.3:c.1408_1413+14del (CYP11B1)
ENST00000517471.5:c.1195_1200+14del (CYP11B1)
ENST00000519285.5:c.229_234+14del (CYP11B1)
ENST00000522728.5:c.181+33999_181+34018del (GML)	ENSP00000430799.1:n.181+33999_181+34018del
NM_000497.3:c.1195_1200+14del (CYP11B1)
NM_001026213.1:c.1195_1200+14del (CYP11B1)
XM_011516870.1:c.1342_1347+14del (CYP11B1)
XM_011516871.1:c.1273_1278+14del (CYP11B1)
XM_011516872.1:c.1264_1269+14del (CYP11B1)
XM_011516873.1:c.1342_1347+14del (CYP11B1)
XM_011516874.1:c.1273_1278+14del (CYP11B1)
XM_011516875.1:c.1081_1086+14del (CYP11B1)
XM_011516876.1:c.1342_1347+14del (CYP11B1)
XM_011516970.1:c.214+33999_214+34018del (GML)	XP_011515272.1:n.214+33999_214+34018del
NM_000497.4:c.1195_1200+14del (CYP11B1)