Canonical Allele Identifier: CA2789064322
Gene: CYP2C19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94775552_94775555del , CM000672.2:g.94775552_94775555del GRCh38
NC_000010.10:g.96535309_96535312del , CM000672.1:g.96535309_96535312del GRCh37
NC_000010.9:g.96525299_96525302del NCBI36
NG_008384.2:g.17847_17850del
NG_008384.3:g.17872_17875del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371321.9:c.481+13_481+16del MANE Select ENSP00000360372.3:n.481+13_481+16del
ENST00000645461.1:n.1534+13_1534+16del
ENST00000371321.7:c.481+13_481+16del ENSP00000360372.3:n.481+13_481+16del
ENST00000464755.1:c.1244+13_1244+16del ENSP00000483243.1:n.1244+13_1244+16del
ENST00000480405.2:c.*5_*8del ENSP00000483847.1:n.*5_*8del
NM_000769.2:c.481+13_481+16del NP_000760.1:n.481+13_481+16del
NM_000769.4:c.481+13_481+16del MANE Select NP_000760.1:n.481+13_481+16del