Canonical Allele Identifier: CA1364835481

Gene: BAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403025_52403027delinsCAG , CM000665.2:g.52403025_52403027delinsCAG	GRCh38
NC_000003.11:g.52437041_52437043delinsCAG , CM000665.1:g.52437041_52437043delinsCAG	GRCh37
NC_000003.10:g.52412081_52412083delinsCAG	NCBI36
NG_031859.1:g.11967_11969delinsCTG , LRG_529:g.11967_11969delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1890+111_1890+113delinsCTG MANE Select	ENSP00000417132.1:n.1890+111_1890+113delinsCTG
ENST00000296288.9:c.1836+111_1836+113delinsCTG	ENSP00000296288.5:n.1836+111_1836+113delinsCTG
ENST00000460680.5:c.1890+111_1890+113delinsCTG	ENSP00000417132.1:n.1890+111_1890+113delinsCTG
ENST00000466093.1:n.408_410delinsCTG
ENST00000469613.5:c.120-186_120-184delinsCTG
ENST00000478368.1:c.394-87_394-85delinsCTG	ENSP00000420647.1:n.394-87_394-85delinsCTG
NM_004656.3:c.1890+111_1890+113delinsCTG	NP_004647.1:n.1890+111_1890+113delinsCTG
XM_011534149.1:c.1891-87_1891-85delinsCTG	XP_011532451.1:n.1891-87_1891-85delinsCTG
XM_011534150.1:c.1846-87_1846-85delinsCTG	XP_011532452.1:n.1846-87_1846-85delinsCTG
XM_011534151.1:c.1837-87_1837-85delinsCTG	XP_011532453.1:n.1837-87_1837-85delinsCTG
XM_011534152.1:c.1846-156_1846-154delinsCTG	XP_011532454.1:n.1846-156_1846-154delinsCTG
XM_011534149.3:c.1891-87_1891-85delinsCTG	XP_011532451.1:n.1891-87_1891-85delinsCTG
XM_011534150.3:c.1846-87_1846-85delinsCTG	XP_011532452.1:n.1846-87_1846-85delinsCTG
XM_011534151.3:c.1837-87_1837-85delinsCTG	XP_011532453.1:n.1837-87_1837-85delinsCTG
XM_011534152.2:c.1846-156_1846-154delinsCTG	XP_011532454.1:n.1846-156_1846-154delinsCTG
XM_017007303.2:c.1836+111_1836+113delinsCTG	XP_016862792.1:n.1836+111_1836+113delinsCTG
NM_004656.4:c.1890+111_1890+113delinsCTG MANE Select	NP_004647.1:n.1890+111_1890+113delinsCTG