Canonical Allele Identifier: CA2529133053
Gene: CYP1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74749934_74749935del , CM000677.2:g.74749934_74749935del GRCh38
NC_000015.9:g.75042275_75042276del , CM000677.1:g.75042275_75042276del GRCh37
NC_000015.8:g.72829328_72829329del NCBI36
NG_008431.1:g.32393_32394del
NG_008431.2:g.32393_32394del
NG_061543.1:g.6090_6091del

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.196_197del MANE Select ENSP00000342007.4:p.Ser66LysfsTer?
ENST00000343932.4:c.196_197del ENSP00000342007.4:p.Ser66LysfsTer?
NM_000761.4:c.196_197del NP_000752.2:p.Ser66LysfsTer?
NM_000761.5:c.196_197del MANE Select NP_000752.2:p.Ser66LysfsTer?