Canonical Allele Identifier: CA7659953

Gene: CYP1A2

Linked Data

• dbSNP Id: rs759497523
• ExAC: 15:75044216 CTA / C
• gnomAD v2: 15-75044216-CTA-C
• gnomAD v3: 15-74751875-CTA-C
• gnomAD v4: 15-74751875-CTA-C
• MyVariant Identifiers: chr15:g.75044217_75044218del (hg19) ; chr15:g.74751876_74751877del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74751878_74751879del , CM000677.2:g.74751878_74751879del	GRCh38
NC_000015.9:g.75044219_75044220del , CM000677.1:g.75044219_75044220del	GRCh37
NC_000015.8:g.72831272_72831273del	NCBI36
NG_008431.1:g.34337_34338del
NG_008431.2:g.34337_34338del
NG_061543.1:g.8034_8035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343932.5:c.1042+24_1042+25del MANE Select	ENSP00000342007.4:n.1042+24_1042+25del
ENST00000343932.4:c.1042+24_1042+25del	ENSP00000342007.4:n.1042+24_1042+25del
NM_000761.4:c.1042+24_1042+25del	NP_000752.2:n.1042+24_1042+25del
NM_000761.5:c.1042+24_1042+25del MANE Select	NP_000752.2:n.1042+24_1042+25del