Canonical Allele Identifier: CA2754297240

Gene: CYP27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218813887_218813889del , CM000664.2:g.218813887_218813889del	GRCh38
NC_000002.11:g.219678610_219678612del , CM000664.1:g.219678610_219678612del	GRCh37
NC_000002.10:g.219386854_219386856del	NCBI36
NG_007959.1:g.37139_37141del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1018-134_1018-132del MANE Select	ENSP00000258415.4:n.1018-134_1018-132del
ENST00000258415.8:c.1018-134_1018-132del	ENSP00000258415.4:n.1018-134_1018-132del
ENST00000445971.1:c.*479-134_*479-132del	ENSP00000404945.1:n.*479-134_*479-132del
ENST00000466602.1:n.1140-134_1140-132del
ENST00000494263.5:n.1452-134_1452-132del
NM_000784.3:c.1018-134_1018-132del	NP_000775.1:n.1018-134_1018-132del
XM_017003488.2:c.598-134_598-132del	XP_016858977.1:n.598-134_598-132del
NM_000784.4:c.1018-134_1018-132del MANE Select	NP_000775.1:n.1018-134_1018-132del