Canonical Allele Identifier: CA2749544586

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071089_38071090insAAGAAAA , CM000664.2:g.38071089_38071090insAAGAAAA	GRCh38
NC_000002.11:g.38298232_38298233insAAGAAAA , CM000664.1:g.38298232_38298233insAAGAAAA	GRCh37
NC_000002.10:g.38151736_38151737insAAGAAAA	NCBI36
NG_008386.2:g.10013_10014insTTTCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.1265_1266insTTTCTTT	ENSP00000478839.2:p.Asn423PhefsTer10
ENST00000610745.5:c.1265_1266insTTTCTTT MANE Select	ENSP00000478561.1:p.Asn423PhefsTer10
ENST00000492443.1:n.643_644insTTTCTTT
ENST00000494864.1:c.152_153insTTTCTTT	ENSP00000479876.1:p.Asn52PhefsTer10
ENST00000610745.4:c.1265_1266insTTTCTTT	ENSP00000478561.1:p.Asn423PhefsTer10
ENST00000614273.1:c.1265_1266insTTTCTTT	ENSP00000483678.1:p.Asn423PhefsTer10
NM_000104.3:c.1265_1266insTTTCTTT	NP_000095.2:p.Asn423PhefsTer10
NM_000104.4:c.1265_1266insTTTCTTT MANE Select	NP_000095.2:p.Asn423PhefsTer10