Canonical Allele Identifier: CA539840518

Gene: CYP27A1

Linked Data

• dbSNP Id: rs1252637707
• gnomAD v2: 2-219677569-AGTT-A
• MyVariant Identifiers: chr2:g.219677570_219677572del (hg19) ; chr2:g.218812847_218812849del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218812849_218812851del , CM000664.2:g.218812849_218812851del	GRCh38
NC_000002.11:g.219677572_219677574del , CM000664.1:g.219677572_219677574del	GRCh37
NC_000002.10:g.219385816_219385818del	NCBI36
NG_007959.1:g.36101_36103del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258415.9:c.845-75_845-73del MANE Select	ENSP00000258415.4:n.845-75_845-73del
ENST00000258415.8:c.845-75_845-73del	ENSP00000258415.4:n.845-75_845-73del
ENST00000411688.1:c.563-75_563-73del	ENSP00000392671.1:n.563-75_563-73del
ENST00000445971.1:c.*306-75_*306-73del	ENSP00000404945.1:n.*306-75_*306-73del
ENST00000466602.1:n.892_894del
ENST00000494263.5:n.1279-75_1279-73del
NM_000784.3:c.845-75_845-73del	NP_000775.1:n.845-75_845-73del
XM_017003488.2:c.425-75_425-73del	XP_016858977.1:n.425-75_425-73del
NM_000784.4:c.845-75_845-73del MANE Select	NP_000775.1:n.845-75_845-73del