Canonical Allele Identifier: CA2658667714

Gene: CYP1B1

Linked Data

• gnomAD v4: 2-38075025-A-AGGCGAAGGACGGCCGGTC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075033_38075034insACGGCCGGTCGGCGAAGG , CM000664.2:g.38075033_38075034insACGGCCGGTCGGCGAAGG	GRCh38
NC_000002.11:g.38302176_38302177insACGGCCGGTCGGCGAAGG , CM000664.1:g.38302176_38302177insACGGCCGGTCGGCGAAGG	GRCh37
NC_000002.10:g.38155680_38155681insACGGCCGGTCGGCGAAGG	NCBI36
NG_008386.2:g.6076_6077insGACCGGCCGTCCTTCGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.363_364insGACCGGCCGTCCTTCGCC	ENSP00000478839.2:p.Ala121_Ser122insAspArgProSerPheAla
ENST00000610745.5:c.363_364insGACCGGCCGTCCTTCGCC MANE Select	ENSP00000478561.1:p.Ala121_Ser122insAspArgProSerPheAla
ENST00000490576.1:c.363_364insGACCGGCCGTCCTTCGCC	ENSP00000478839.1:p.Ala121_Ser122insAspArgProSerPheAla
ENST00000494864.1:c.-70-3716_-70-3715insGACCGGCCGTCCTTCGCC	ENSP00000479876.1:n.-70-3716_-70-3715insGACCGGCCGTCCTTCGCC
ENST00000610745.4:c.363_364insGACCGGCCGTCCTTCGCC	ENSP00000478561.1:p.Ala121_Ser122insAspArgProSerPheAla
ENST00000613082.1:n.376-618_376-617insGACCGGCCGTCCTTCGCC
ENST00000614273.1:c.363_364insGACCGGCCGTCCTTCGCC	ENSP00000483678.1:p.Ala121_Ser122insAspArgProSerPheAla
NM_000104.3:c.363_364insGACCGGCCGTCCTTCGCC	NP_000095.2:p.Ala121_Ser122insAspArgProSerPheAla
NM_000104.4:c.363_364insGACCGGCCGTCCTTCGCC MANE Select	NP_000095.2:p.Ala121_Ser122insAspArgProSerPheAla