Canonical Allele Identifier: CA2749545438
Gene: CYP1B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075504_38075505insACA , CM000664.2:g.38075504_38075505insACA GRCh38
NC_000002.11:g.38302647_38302648insACA , CM000664.1:g.38302647_38302648insACA GRCh37
NC_000002.10:g.38156151_38156152insACA NCBI36
NG_008386.2:g.5597_5598insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-116_-1-115insTGT ENSP00000478839.2:n.-1-116_-1-115insTGT
ENST00000610745.5:c.-1-116_-1-115insTGT MANE Select ENSP00000478561.1:n.-1-116_-1-115insTGT
ENST00000490576.1:c.-1-116_-1-115insTGT ENSP00000478839.1:n.-1-116_-1-115insTGT
ENST00000494864.1:c.-70-4195_-70-4194insTGT ENSP00000479876.1:n.-70-4195_-70-4194insTGT
ENST00000610745.4:c.-1-116_-1-115insTGT ENSP00000478561.1:n.-1-116_-1-115insTGT
ENST00000613082.1:n.375+275_375+276insTGT
ENST00000614273.1:c.-1-116_-1-115insTGT ENSP00000483678.1:n.-1-116_-1-115insTGT
NM_000104.3:c.-1-116_-1-115insTGT NP_000095.2:n.-1-116_-1-115insTGT
XM_011533236.1:c.118_119insACA XP_011531538.1:p.Leu40delinsHisMet
NM_000104.4:c.-1-116_-1-115insTGT MANE Select NP_000095.2:n.-1-116_-1-115insTGT
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