Canonical Allele Identifier: CA2663164955

Gene: CYP27A1

Linked Data

• gnomAD v4: 2-218782556-G-GGA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218782556_218782557insGA , CM000664.2:g.218782556_218782557insGA	GRCh38
NC_000002.11:g.219647279_219647280insGA , CM000664.1:g.219647279_219647280insGA	GRCh37
NC_000002.10:g.219355523_219355524insGA	NCBI36
NG_007959.1:g.5808_5809insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.255+119_255+120insGA MANE Select	ENSP00000258415.4:n.255+119_255+120insGA
ENST00000258415.8:c.255+119_255+120insGA	ENSP00000258415.4:n.255+119_255+120insGA
ENST00000445971.1:c.255+119_255+120insGA	ENSP00000404945.1:n.255+119_255+120insGA
ENST00000466602.1:n.264+119_264+120insGA
ENST00000494263.5:n.689+119_689+120insGA
NM_000784.3:c.255+119_255+120insGA	NP_000775.1:n.255+119_255+120insGA
XM_017003488.2:c.26+119_26+120insGA	XP_016858977.1:n.26+119_26+120insGA
NM_000784.4:c.255+119_255+120insGA MANE Select	NP_000775.1:n.255+119_255+120insGA