Canonical Allele Identifier: CA2585217224

Gene: CYP2B6

Linked Data

• gnomAD v4: 19-41012825-ACCCACAATTTCTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41012830_41012843del , CM000681.2:g.41012830_41012843del	GRCh38
NC_000019.9:g.41518735_41518748del , CM000681.1:g.41518735_41518748del	GRCh37
NC_000019.8:g.46210575_46210588del	NCBI36
NG_007929.1:g.26532_26545del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324071.10:c.1294+15_1294+28del MANE Select	ENSP00000324648.2:n.1294+15_1294+28del
ENST00000598834.2:c.1177-143_1177-130del
ENST00000324071.8:c.1294+15_1294+28del	ENSP00000324648.2:n.1294+15_1294+28del
ENST00000593831.1:c.586+15_586+28del	ENSP00000470582.1:n.586+15_586+28del
ENST00000597612.1:n.647+345_647+358del
NM_000767.4:c.1294+15_1294+28del	NP_000758.1:n.1294+15_1294+28del
XM_005258569.3:c.1152+345_1152+358del	XP_005258626.1:n.1152+345_1152+358del
XM_006723050.2:c.1294+15_1294+28del	XP_006723113.1:n.1294+15_1294+28del
XM_011526546.1:c.1167_1180del	XP_011524848.1:p.His389GlnfsTer19
XM_011526547.1:c.1153-143_1153-130del	XP_011524849.1:n.1153-143_1153-130del
XM_011526548.1:c.814+15_814+28del	XP_011524850.1:n.814+15_814+28del
XM_011526549.1:c.703+15_703+28del	XP_011524851.1:n.703+15_703+28del
XM_011526550.1:c.694+15_694+28del	XP_011524852.1:n.694+15_694+28del
NM_000767.5:c.1294+15_1294+28del MANE Select	NP_000758.1:n.1294+15_1294+28del