Canonical Allele Identifier: CA658821508

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 556785
• ClinVar RCV Id: RCV000672837
• dbSNP Id: rs1553616276
• gnomAD v4: 2-218812623-T-TTCG
• MyVariant Identifiers: chr2:g.218812626_218812628dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218812626_218812628dup , CM000664.2:g.218812626_218812628dup	GRCh38
NC_000002.11:g.219677349_219677351dup , CM000664.1:g.219677349_219677351dup	GRCh37
NC_000002.10:g.219385593_219385595dup	NCBI36
NG_007959.1:g.35878_35880dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.721_723dup MANE Select	ENSP00000258415.4:p.Val241_Arg242insVal
ENST00000258415.8:c.721_723dup	ENSP00000258415.4:p.Val241_Arg242insVal
ENST00000411688.1:c.439_441dup	ENSP00000392671.1:p.Val147_Arg148insVal
ENST00000445971.1:c.*182_*184dup	ENSP00000404945.1:n.*182_*184dup
ENST00000466602.1:n.669_671dup
ENST00000494263.5:n.1155_1157dup
NM_000784.3:c.721_723dup	NP_000775.1:p.Val241_Arg242insVal
XM_017003488.2:c.301_303dup	XP_016858977.1:p.Val101_Arg102insVal
NM_000784.4:c.721_723dup MANE Select	NP_000775.1:p.Val241_Arg242insVal