Canonical Allele Identifier: CA2658668035

Gene: CYP1B1

Linked Data

• gnomAD v4: 2-38075614-TTCCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075620_38075624del , CM000664.2:g.38075620_38075624del	GRCh38
NC_000002.11:g.38302763_38302767del , CM000664.1:g.38302763_38302767del	GRCh37
NC_000002.10:g.38156267_38156271del	NCBI36
NG_008386.2:g.5483_5487del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-230_-1-226del	ENSP00000478839.2:n.-1-230_-1-226del
ENST00000610745.5:c.-2+161_-2+165del MANE Select	ENSP00000478561.1:n.-2+161_-2+165del
ENST00000490576.1:c.-1-230_-1-226del	ENSP00000478839.1:n.-1-230_-1-226del
ENST00000494864.1:c.-70-4309_-70-4305del	ENSP00000479876.1:n.-70-4309_-70-4305del
ENST00000610745.4:c.-2+161_-2+165del	ENSP00000478561.1:n.-2+161_-2+165del
ENST00000613082.1:n.375+161_375+165del
ENST00000614273.1:c.-2+157_-2+161del	ENSP00000483678.1:n.-2+157_-2+161del
NM_000104.3:c.-2+161_-2+165del	NP_000095.2:n.-2+161_-2+165del
XM_011533236.1:c.234_238del	XP_011531538.1:p.Pro79GlnfsTer4
NM_000104.4:c.-2+161_-2+165del MANE Select	NP_000095.2:n.-2+161_-2+165del