Canonical Allele Identifier: CA1619962

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38074584_38074592del , CM000664.2:g.38074584_38074592del	GRCh38
NC_000002.11:g.38301727_38301735del , CM000664.1:g.38301727_38301735del	GRCh37
NC_000002.10:g.38155231_38155239del	NCBI36
NG_008386.2:g.6519_6527del

Transcript Alleles

HGVS	Amino-acid Change
NM_000104.4:c.806_814del MANE Select	NP_000095.2:p.Ser269_Phe271del
ENST00000610745.5:c.806_814del MANE Select	ENSP00000478561.1:p.Ser269_Phe271del
NM_000104.3:c.806_814del	NP_000095.2:p.Ser269_Phe271del
ENST00000490576.2:c.806_814del	ENSP00000478839.2:p.Ser269_Phe271del
ENST00000494864.1:c.-70-3273_-70-3265del	ENSP00000479876.1:n.-70-3273_-70-3265del
ENST00000610745.4:c.806_814del	ENSP00000478561.1:p.Ser269_Phe271del
ENST00000613082.1:n.376-175_376-167del
ENST00000614273.1:c.806_814del	ENSP00000483678.1:p.Ser269_Phe271del