Canonical Allele Identifier: CA2663168131

Gene: CYP27A1

Linked Data

• gnomAD v4: 2-218814325-G-GTACAAAGTGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814325_218814326insTACAAAGTGCCC , CM000664.2:g.218814325_218814326insTACAAAGTGCCC	GRCh38
NC_000002.11:g.219679048_219679049insTACAAAGTGCCC , CM000664.1:g.219679048_219679049insTACAAAGTGCCC	GRCh37
NC_000002.10:g.219387292_219387293insTACAAAGTGCCC	NCBI36
NG_007959.1:g.37577_37578insTACAAAGTGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1185-55_1185-54insTACAAAGTGCCC MANE Select	ENSP00000258415.4:n.1185-55_1185-54insTACAAAGTGCCC
ENST00000258415.8:c.1185-55_1185-54insTACAAAGTGCCC	ENSP00000258415.4:n.1185-55_1185-54insTACAAAGTGCCC
ENST00000494263.5:n.1756_1757insTACAAAGTGCCC
NM_000784.3:c.1185-55_1185-54insTACAAAGTGCCC	NP_000775.1:n.1185-55_1185-54insTACAAAGTGCCC
XM_017003488.2:c.765-55_765-54insTACAAAGTGCCC	XP_016858977.1:n.765-55_765-54insTACAAAGTGCCC
NM_000784.4:c.1185-55_1185-54insTACAAAGTGCCC MANE Select	NP_000775.1:n.1185-55_1185-54insTACAAAGTGCCC