Canonical Allele Identifier: CA971501059
Gene: CYP1A2 HGNC NCBI

Linked Data

gnomAD v3: 15-74755346-ATCTC-A
gnomAD v4: 15-74755346-ATCTC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74755347_74755350del , CM000677.2:g.74755347_74755350del GRCh38
NC_000015.9:g.75047688_75047691del , CM000677.1:g.75047688_75047691del GRCh37
NC_000015.8:g.72834741_72834744del NCBI36
NG_008431.1:g.37806_37809del
NG_008431.2:g.37806_37809del
NG_061543.1:g.11503_11506del

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.*259_*262del MANE Select ENSP00000342007.4:n.*259_*262del
ENST00000343932.4:c.*259_*262del ENSP00000342007.4:n.*259_*262del
NM_000761.4:c.*259_*262del NP_000752.2:n.*259_*262del
NM_000761.5:c.*259_*262del MANE Select NP_000752.2:n.*259_*262del
Search 100 bp 5'
Search 100 bp 3'