Canonical Allele Identifier: CA2666008486

Gene: BAP1

Linked Data

• gnomAD v4: 3-52403053-AATCAAGAACTTGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403055_52403068del , CM000665.2:g.52403055_52403068del	GRCh38
NC_000003.11:g.52437071_52437084del , CM000665.1:g.52437071_52437084del	GRCh37
NC_000003.10:g.52412111_52412124del	NCBI36
NG_031859.1:g.11927_11940del , LRG_529:g.11927_11940del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1890+71_1890+84del MANE Select	ENSP00000417132.1:n.1890+71_1890+84del
ENST00000296288.9:c.1836+71_1836+84del	ENSP00000296288.5:n.1836+71_1836+84del
ENST00000460680.5:c.1890+71_1890+84del	ENSP00000417132.1:n.1890+71_1890+84del
ENST00000466093.1:n.368_381del
ENST00000469613.5:c.120-226_120-213del
ENST00000478368.1:c.393+71_393+84del	ENSP00000420647.1:n.393+71_393+84del
NM_004656.3:c.1890+71_1890+84del	NP_004647.1:n.1890+71_1890+84del
XM_011534149.1:c.1890+71_1890+84del	XP_011532451.1:n.1890+71_1890+84del
XM_011534150.1:c.1845+116_1846-114del	XP_011532452.1:n.1845+116_1846-114del
XM_011534151.1:c.1836+71_1836+84del	XP_011532453.1:n.1836+71_1836+84del
XM_011534152.1:c.1845+116_1845+129del	XP_011532454.1:n.1845+116_1845+129del
XM_011534149.3:c.1890+71_1890+84del	XP_011532451.1:n.1890+71_1890+84del
XM_011534150.3:c.1845+116_1846-114del	XP_011532452.1:n.1845+116_1846-114del
XM_011534151.3:c.1836+71_1836+84del	XP_011532453.1:n.1836+71_1836+84del
XM_011534152.2:c.1845+116_1845+129del	XP_011532454.1:n.1845+116_1845+129del
XM_017007303.2:c.1836+71_1836+84del	XP_016862792.1:n.1836+71_1836+84del
NM_004656.4:c.1890+71_1890+84del MANE Select	NP_004647.1:n.1890+71_1890+84del