Canonical Allele Identifier: CA491220046
Gene: CYP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1201346796

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74755370_74755373del , CM000677.2:g.74755370_74755373del GRCh38
NC_000015.9:g.75047711_75047714del , CM000677.1:g.75047711_75047714del GRCh37
NC_000015.8:g.72834764_72834767del NCBI36
NG_008431.1:g.37829_37832del
NG_008431.2:g.37829_37832del
NG_061543.1:g.11526_11529del

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.*282_*285del MANE Select ENSP00000342007.4:n.*282_*285del
ENST00000343932.4:c.*282_*285del ENSP00000342007.4:n.*282_*285del
NM_000761.4:c.*282_*285del NP_000752.2:n.*282_*285del
NM_000761.5:c.*282_*285del MANE Select NP_000752.2:n.*282_*285del