Canonical Allele Identifier: CA2663168098

Gene: CYP27A1

Linked Data

• gnomAD v4: 2-218814210-G-GGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGAGAGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814265_218814266insGAGGTGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGA , CM000664.2:g.218814265_218814266insGAGGTGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGA	GRCh38
NC_000002.11:g.219678988_219678989insGAGGTGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGA , CM000664.1:g.219678988_219678989insGAGGTGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGA	GRCh37
NC_000002.10:g.219387232_219387233insGAGGTGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGA	NCBI36
NG_007959.1:g.37517_37518insGAGGTGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1184+78_1184+79insGAGGTGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGA MANE Select	ENSP00000258415.4:n.1184+78_1184+79insGAGGTGGGCACAGGATCTCTTTG...
ENST00000258415.8:c.1184+78_1184+79insGAGGTGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGA	ENSP00000258415.4:n.1184+78_1184+79insGAGGTGGGCACAGGATCTCTTTG...
ENST00000494263.5:n.1696_1697insGAGGTGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGA
NM_000784.3:c.1184+78_1184+79insGAGGTGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGA	NP_000775.1:n.1184+78_1184+79insGAGGTGGGCACAGGATCTCTTTGTGGGGA...
XM_017003488.2:c.764+78_764+79insGAGGTGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGA	XP_016858977.1:n.764+78_764+79insGAGGTGGGCACAGGATCTCTTTGTGGGG...
NM_000784.4:c.1184+78_1184+79insGAGGTGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGA MANE Select	NP_000775.1:n.1184+78_1184+79insGAGGTGGGCACAGGATCTCTTTGTGGGGA...