Canonical Allele Identifier: CA2663168128

Gene: CYP27A1

Linked Data

• gnomAD v4: 2-218814312-GAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814315_218814317del , CM000664.2:g.218814315_218814317del	GRCh38
NC_000002.11:g.219679038_219679040del , CM000664.1:g.219679038_219679040del	GRCh37
NC_000002.10:g.219387282_219387284del	NCBI36
NG_007959.1:g.37567_37569del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1185-65_1185-63del MANE Select	ENSP00000258415.4:n.1185-65_1185-63del
ENST00000258415.8:c.1185-65_1185-63del	ENSP00000258415.4:n.1185-65_1185-63del
ENST00000494263.5:n.1746_1748del
NM_000784.3:c.1185-65_1185-63del	NP_000775.1:n.1185-65_1185-63del
XM_017003488.2:c.765-65_765-63del	XP_016858977.1:n.765-65_765-63del
NM_000784.4:c.1185-65_1185-63del MANE Select	NP_000775.1:n.1185-65_1185-63del