Canonical Allele Identifier: CA1929278448
Gene: CYP2C19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94850250_94850254delinsGAATT , CM000672.2:g.94850250_94850254delinsGAATT GRCh38
NC_000010.10:g.96610007_96610011delinsGAATT , CM000672.1:g.96610007_96610011delinsGAATT GRCh37
NC_000010.9:g.96599997_96600001delinsGAATT NCBI36
NG_008384.2:g.92545_92549delinsGAATT
NG_008384.3:g.92570_92574delinsGAATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000371321.9:c.1291+192_1291+196delinsGAATT MANE Select ENSP00000360372.3:n.1291+192_1291+196delinsGAATT
ENST00000645461.1:n.2202+192_2202+196delinsGAATT
ENST00000371321.7:c.1291+192_1291+196delinsGAATT ENSP00000360372.3:n.1291+192_1291+196delinsGAATT
ENST00000464755.1:c.2054+192_2054+196delinsGAATT ENSP00000483243.1:n.2054+192_2054+196delinsGAATT
NM_000769.2:c.1291+192_1291+196delinsGAATT NP_000760.1:n.1291+192_1291+196delinsGAATT
NM_000769.4:c.1291+192_1291+196delinsGAATT MANE Select NP_000760.1:n.1291+192_1291+196delinsGAATT