Canonical Allele Identifier: CA543056556

Gene: BAP1

Linked Data

• dbSNP Id: rs1192192010
• gnomAD v2: 3-52437041-CAG-C
• gnomAD v4: 3-52403025-CAG-C
• MyVariant Identifiers: chr3:g.52437042_52437043del (hg19) ; chr3:g.52403026_52403027del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403026_52403027del , CM000665.2:g.52403026_52403027del	GRCh38
NC_000003.11:g.52437042_52437043del , CM000665.1:g.52437042_52437043del	GRCh37
NC_000003.10:g.52412082_52412083del	NCBI36
NG_031859.1:g.11967_11968del , LRG_529:g.11967_11968del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1890+111_1890+112del MANE Select	ENSP00000417132.1:n.1890+111_1890+112del
ENST00000296288.9:c.1836+111_1836+112del	ENSP00000296288.5:n.1836+111_1836+112del
ENST00000460680.5:c.1890+111_1890+112del	ENSP00000417132.1:n.1890+111_1890+112del
ENST00000466093.1:n.408_409del
ENST00000469613.5:c.120-186_120-185del
ENST00000478368.1:c.394-87_394-86del	ENSP00000420647.1:n.394-87_394-86del
NM_004656.3:c.1890+111_1890+112del	NP_004647.1:n.1890+111_1890+112del
XM_011534149.1:c.1891-87_1891-86del	XP_011532451.1:n.1891-87_1891-86del
XM_011534150.1:c.1846-87_1846-86del	XP_011532452.1:n.1846-87_1846-86del
XM_011534151.1:c.1837-87_1837-86del	XP_011532453.1:n.1837-87_1837-86del
XM_011534152.1:c.1846-156_1846-155del	XP_011532454.1:n.1846-156_1846-155del
XM_011534149.3:c.1891-87_1891-86del	XP_011532451.1:n.1891-87_1891-86del
XM_011534150.3:c.1846-87_1846-86del	XP_011532452.1:n.1846-87_1846-86del
XM_011534151.3:c.1837-87_1837-86del	XP_011532453.1:n.1837-87_1837-86del
XM_011534152.2:c.1846-156_1846-155del	XP_011532454.1:n.1846-156_1846-155del
XM_017007303.2:c.1836+111_1836+112del	XP_016862792.1:n.1836+111_1836+112del
NM_004656.4:c.1890+111_1890+112del MANE Select	NP_004647.1:n.1890+111_1890+112del