Canonical Allele Identifier: CA908132388

Gene: BAP1

Linked Data

• dbSNP Id: rs1186457565
• gnomAD v3: 3-52403025-C-CA
• gnomAD v4: 3-52403025-C-CA
• MyVariant Identifiers: chr3:g.52437041_52437042insA (hg19) ; chr3:g.52403025_52403026insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403026dup , CM000665.2:g.52403026dup	GRCh38
NC_000003.11:g.52437042dup , CM000665.1:g.52437042dup	GRCh37
NC_000003.10:g.52412082dup	NCBI36
NG_031859.1:g.11968dup , LRG_529:g.11968dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000460680.6:c.1890+112dup MANE Select	ENSP00000417132.1:n.1890+112dup
ENST00000296288.9:c.1836+112dup	ENSP00000296288.5:n.1836+112dup
ENST00000460680.5:c.1890+112dup	ENSP00000417132.1:n.1890+112dup
ENST00000466093.1:n.409dup
ENST00000469613.5:c.120-185dup
ENST00000478368.1:c.394-86dup	ENSP00000420647.1:n.394-86dup
NM_004656.3:c.1890+112dup	NP_004647.1:n.1890+112dup
XM_011534149.1:c.1891-86dup	XP_011532451.1:n.1891-86dup
XM_011534150.1:c.1846-86dup	XP_011532452.1:n.1846-86dup
XM_011534151.1:c.1837-86dup	XP_011532453.1:n.1837-86dup
XM_011534152.1:c.1846-155dup	XP_011532454.1:n.1846-155dup
XM_011534149.3:c.1891-86dup	XP_011532451.1:n.1891-86dup
XM_011534150.3:c.1846-86dup	XP_011532452.1:n.1846-86dup
XM_011534151.3:c.1837-86dup	XP_011532453.1:n.1837-86dup
XM_011534152.2:c.1846-155dup	XP_011532454.1:n.1846-155dup
XM_017007303.2:c.1836+112dup	XP_016862792.1:n.1836+112dup
NM_004656.4:c.1890+112dup MANE Select	NP_004647.1:n.1890+112dup