Canonical Allele Identifier: CA2629468444

Gene: CYP11A1

Linked Data

• gnomAD v4: 15-74339516-TTTCCCCGGGCAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74339522_74339533del , CM000677.2:g.74339522_74339533del	GRCh38
NC_000015.9:g.74631863_74631874del , CM000677.1:g.74631863_74631874del	GRCh37
NC_000015.8:g.72418916_72418927del	NCBI36
NG_007973.1:g.33214_33225del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.1157+59_1157+70del MANE Select	ENSP00000268053.6:n.1157+59_1157+70del
ENST00000268053.10:c.1157+59_1157+70del	ENSP00000268053.6:n.1157+59_1157+70del
ENST00000358632.8:c.683+59_683+70del	ENSP00000351455.4:n.683+59_683+70del
ENST00000435365.5:c.1157+59_1157+70del	ENSP00000391081.1:n.1157+59_1157+70del
NM_000781.2:c.1157+59_1157+70del	NP_000772.2:n.1157+59_1157+70del
NM_001099773.1:c.683+59_683+70del	NP_001093243.1:n.683+59_683+70del
NM_000781.3:c.1157+59_1157+70del MANE Select	NP_000772.2:n.1157+59_1157+70del
NM_001099773.2:c.683+59_683+70del	NP_001093243.1:n.683+59_683+70del