Canonical Allele Identifier: CA2663164956

Gene: CYP27A1

Linked Data

• gnomAD v4: 2-218782557-AGGCTATGGTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218782558_218782567del , CM000664.2:g.218782558_218782567del	GRCh38
NC_000002.11:g.219647281_219647290del , CM000664.1:g.219647281_219647290del	GRCh37
NC_000002.10:g.219355525_219355534del	NCBI36
NG_007959.1:g.5810_5819del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.255+121_255+130del MANE Select	ENSP00000258415.4:n.255+121_255+130del
ENST00000258415.8:c.255+121_255+130del	ENSP00000258415.4:n.255+121_255+130del
ENST00000445971.1:c.255+121_255+130del	ENSP00000404945.1:n.255+121_255+130del
ENST00000466602.1:n.264+121_264+130del
ENST00000494263.5:n.689+121_689+130del
NM_000784.3:c.255+121_255+130del	NP_000775.1:n.255+121_255+130del
XM_017003488.2:c.26+121_26+130del	XP_016858977.1:n.26+121_26+130del
NM_000784.4:c.255+121_255+130del MANE Select	NP_000775.1:n.255+121_255+130del