Canonical Allele Identifier: CA2658668056

Gene: CYP1B1

Linked Data

• gnomAD v4: 2-38075624-C-CAACCCACTCTCCCTTGGAGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075624_38075625insAACCCACTCTCCCTTGGAGAA , CM000664.2:g.38075624_38075625insAACCCACTCTCCCTTGGAGAA	GRCh38
NC_000002.11:g.38302767_38302768insAACCCACTCTCCCTTGGAGAA , CM000664.1:g.38302767_38302768insAACCCACTCTCCCTTGGAGAA	GRCh37
NC_000002.10:g.38156271_38156272insAACCCACTCTCCCTTGGAGAA	NCBI36
NG_008386.2:g.5477_5478insTTCTCCAAGGGAGAGTGGGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-236_-1-235insTTCTCCAAGGGAGAGTGGGTT	ENSP00000478839.2:n.-1-236_-1-235insTTCTCCAAGGGAGAGTGGGTT
ENST00000610745.5:c.-2+155_-2+156insTTCTCCAAGGGAGAGTGGGTT MANE Select	ENSP00000478561.1:n.-2+155_-2+156insTTCTCCAAGGGAGAGTGGGTT
ENST00000490576.1:c.-1-236_-1-235insTTCTCCAAGGGAGAGTGGGTT	ENSP00000478839.1:n.-1-236_-1-235insTTCTCCAAGGGAGAGTGGGTT
ENST00000494864.1:c.-70-4315_-70-4314insTTCTCCAAGGGAGAGTGGGTT	ENSP00000479876.1:n.-70-4315_-70-4314insTTCTCCAAGGGAGAGTGGGTT...
ENST00000610745.4:c.-2+155_-2+156insTTCTCCAAGGGAGAGTGGGTT	ENSP00000478561.1:n.-2+155_-2+156insTTCTCCAAGGGAGAGTGGGTT
ENST00000613082.1:n.375+155_375+156insTTCTCCAAGGGAGAGTGGGTT
ENST00000614273.1:c.-2+151_-2+152insTTCTCCAAGGGAGAGTGGGTT	ENSP00000483678.1:n.-2+151_-2+152insTTCTCCAAGGGAGAGTGGGTT
NM_000104.3:c.-2+155_-2+156insTTCTCCAAGGGAGAGTGGGTT	NP_000095.2:n.-2+155_-2+156insTTCTCCAAGGGAGAGTGGGTT
XM_011533236.1:c.238_239insAACCCACTCTCCCTTGGAGAA	XP_011531538.1:p.Arg80delinsGlnProThrLeuProTrpArgSer
NM_000104.4:c.-2+155_-2+156insTTCTCCAAGGGAGAGTGGGTT MANE Select	NP_000095.2:n.-2+155_-2+156insTTCTCCAAGGGAGAGTGGGTT