Canonical Allele Identifier: CA2575790184
Gene: CYP1A2 HGNC NCBI

Linked Data

gnomAD v4: 15-74750316-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74750318del , CM000677.2:g.74750318del GRCh38
NC_000015.9:g.75042659del , CM000677.1:g.75042659del GRCh37
NC_000015.8:g.72829712del NCBI36
NG_008431.1:g.32777del
NG_008431.2:g.32777del
NG_061543.1:g.6474del

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.580del MANE Select ENSP00000342007.4:p.Val194CysfsTer27
ENST00000343932.4:c.580del ENSP00000342007.4:p.Val194CysfsTer27
NM_000761.4:c.580del NP_000752.2:p.Val194CysfsTer27
NM_000761.5:c.580del MANE Select NP_000752.2:p.Val194CysfsTer27
Search 100 bp 5'
Search 100 bp 3'