Canonical Allele Identifier: CA2112741

Gene: CYP27A1

Linked Data

• dbSNP Id: rs749076752
• ExAC: 2:219677629 TCTC / T
• gnomAD v2: 2-219677629-TCTC-T
• gnomAD v3: 2-218812906-TCTC-T
• gnomAD v4: 2-218812906-TCTC-T
• MyVariant Identifiers: chr2:g.219677630_219677632del (hg19) ; chr2:g.218812907_218812909del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218812907_218812909del , CM000664.2:g.218812907_218812909del	GRCh38
NC_000002.11:g.219677630_219677632del , CM000664.1:g.219677630_219677632del	GRCh37
NC_000002.10:g.219385874_219385876del	NCBI36
NG_007959.1:g.36159_36161del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.845-17_845-15del MANE Select	ENSP00000258415.4:n.845-17_845-15del
ENST00000258415.8:c.845-17_845-15del	ENSP00000258415.4:n.845-17_845-15del
ENST00000411688.1:c.563-17_563-15del	ENSP00000392671.1:n.563-17_563-15del
ENST00000445971.1:c.*306-17_*306-15del	ENSP00000404945.1:n.*306-17_*306-15del
ENST00000466602.1:n.950_952del
ENST00000494263.5:n.1279-17_1279-15del
NM_000784.3:c.845-17_845-15del	NP_000775.1:n.845-17_845-15del
XM_017003488.2:c.425-17_425-15del	XP_016858977.1:n.425-17_425-15del
NM_000784.4:c.845-17_845-15del MANE Select	NP_000775.1:n.845-17_845-15del