Canonical Allele Identifier: CA619121357
Gene: CYP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1288558234
gnomAD v2: 15-75041240-TA-T
gnomAD v3: 15-74748899-TA-T
gnomAD v4: 15-74748899-TA-T
MyVariant Identifiers: chr15:g.75041241del (hg19) chr15:g.74748900del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74748900del , CM000677.2:g.74748900del GRCh38
NC_000015.9:g.75041241del , CM000677.1:g.75041241del GRCh37
NC_000015.8:g.72828294del NCBI36
NG_008431.1:g.31359del
NG_008431.2:g.31359del
NG_061543.1:g.5056del

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.-10+3del MANE Select ENSP00000342007.4:n.-10+3del
ENST00000343932.4:c.-10+3del ENSP00000342007.4:n.-10+3del
NM_000761.4:c.-10+3del NP_000752.2:n.-10+3del
NM_000761.5:c.-10+3del MANE Select NP_000752.2:n.-10+3del
Search 100 bp 5'
Search 100 bp 3'