Canonical Allele Identifier: CA2578955196
Gene: CYP3A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99768366_99768369del , CM000669.2:g.99768366_99768369del GRCh38
NC_000007.13:g.99365989_99365992del , CM000669.1:g.99365989_99365992del GRCh37
NC_000007.12:g.99203925_99203928del NCBI36
NG_008421.1:g.20821_20824del

Transcript Alleles

HGVS Amino-acid change
ENST00000336411.7:c.659_662del ENSP00000337915.3:p.Phe220SerfsTer3
ENST00000651514.1:c.659_662del MANE Select ENSP00000498939.1:p.Phe220SerfsTer3
ENST00000651783.1:c.200_203del ENSP00000498924.1:p.Phe67SerfsTer3
ENST00000652018.1:c.512_515del ENSP00000498733.1:p.Phe171SerfsTer3
ENST00000336411.6:c.659_662del ENSP00000337915.2:p.Phe220SerfsTer3
ENST00000354593.6:c.209_212del ENSP00000346607.2:p.Phe70SerfsTer3
NM_001202855.2:c.659_662del NP_001189784.1:p.Phe220SerfsTer3
NM_017460.5:c.659_662del NP_059488.2:p.Phe220SerfsTer3
XM_011515841.1:c.659_662del XP_011514143.1:p.Phe220SerfsTer3
XM_011515842.1:c.659_662del XP_011514144.1:p.Phe220SerfsTer3
NM_017460.6:c.659_662del MANE Select NP_059488.2:p.Phe220SerfsTer3
NM_001202855.3:c.659_662del NP_001189784.1:p.Phe220SerfsTer3