Canonical Allele Identifier: CA2666008640

Gene: BAP1

Linked Data

• gnomAD v4: 3-52403119-AACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403122_52403124del , CM000665.2:g.52403122_52403124del	GRCh38
NC_000003.11:g.52437138_52437140del , CM000665.1:g.52437138_52437140del	GRCh37
NC_000003.10:g.52412178_52412180del	NCBI36
NG_031859.1:g.11872_11874del , LRG_529:g.11872_11874del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1890+16_1890+18del MANE Select	ENSP00000417132.1:n.1890+16_1890+18del
ENST00000296288.9:c.1836+16_1836+18del	ENSP00000296288.5:n.1836+16_1836+18del
ENST00000460680.5:c.1890+16_1890+18del	ENSP00000417132.1:n.1890+16_1890+18del
ENST00000466093.1:n.313_315del
ENST00000469613.5:c.120-281_120-279del
ENST00000478368.1:c.393+16_393+18del	ENSP00000420647.1:n.393+16_393+18del
NM_004656.3:c.1890+16_1890+18del	NP_004647.1:n.1890+16_1890+18del
XM_011534149.1:c.1890+16_1890+18del	XP_011532451.1:n.1890+16_1890+18del
XM_011534150.1:c.1845+61_1845+63del	XP_011532452.1:n.1845+61_1845+63del
XM_011534151.1:c.1836+16_1836+18del	XP_011532453.1:n.1836+16_1836+18del
XM_011534152.1:c.1845+61_1845+63del	XP_011532454.1:n.1845+61_1845+63del
XM_011534149.3:c.1890+16_1890+18del	XP_011532451.1:n.1890+16_1890+18del
XM_011534150.3:c.1845+61_1845+63del	XP_011532452.1:n.1845+61_1845+63del
XM_011534151.3:c.1836+16_1836+18del	XP_011532453.1:n.1836+16_1836+18del
XM_011534152.2:c.1845+61_1845+63del	XP_011532454.1:n.1845+61_1845+63del
XM_017007303.2:c.1836+16_1836+18del	XP_016862792.1:n.1836+16_1836+18del
NM_004656.4:c.1890+16_1890+18del MANE Select	NP_004647.1:n.1890+16_1890+18del