Canonical Allele Identifier: CA2663168093
Gene: CYP27A1 HGNC NCBI

Linked Data

gnomAD v4: 2-218814207-TGGGGGGC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814208_218814214del , CM000664.2:g.218814208_218814214del GRCh38
NC_000002.11:g.219678931_219678937del , CM000664.1:g.219678931_219678937del GRCh37
NC_000002.10:g.219387175_219387181del NCBI36
NG_007959.1:g.37460_37466del

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.1184+21_1184+27del MANE Select ENSP00000258415.4:n.1184+21_1184+27del
ENST00000258415.8:c.1184+21_1184+27del ENSP00000258415.4:n.1184+21_1184+27del
ENST00000494263.5:n.1639_1645del
NM_000784.3:c.1184+21_1184+27del NP_000775.1:n.1184+21_1184+27del
XM_017003488.2:c.764+21_764+27del XP_016858977.1:n.764+21_764+27del
NM_000784.4:c.1184+21_1184+27del MANE Select NP_000775.1:n.1184+21_1184+27del
Search 100 bp 5'
Search 100 bp 3'