Canonical Allele Identifier: CA543056554

Gene: BAP1

Linked Data

• dbSNP Id: rs1249657380
• gnomAD v2: 3-52436999-C-CAAAGCCCCACGAGCAATAGG
• MyVariant Identifiers: chr3:g.52436999_52437000insAAAGCCCCACGAGCAATAGG (hg19) ; chr3:g.52402983_52402984insAAAGCCCCACGAGCAATAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402983_52402984insAAAGCCCCACGAGCAATAGG , CM000665.2:g.52402983_52402984insAAAGCCCCACGAGCAATAGG	GRCh38
NC_000003.11:g.52436999_52437000insAAAGCCCCACGAGCAATAGG , CM000665.1:g.52436999_52437000insAAAGCCCCACGAGCAATAGG	GRCh37
NC_000003.10:g.52412039_52412040insAAAGCCCCACGAGCAATAGG	NCBI36
NG_031859.1:g.12010_12011insCCTATTGCTCGTGGGGCTTT , LRG_529:g.12010_12011insCCTATTGCTCGTGGGGCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1891-113_1891-112insCCTATTGCTCGTGGGGCTTT MANE Select	ENSP00000417132.1:n.1891-113_1891-112insCCTATTGCTCGTGGGGCTTT
ENST00000296288.9:c.1837-113_1837-112insCCTATTGCTCGTGGGGCTTT	ENSP00000296288.5:n.1837-113_1837-112insCCTATTGCTCGTGGGGCTTT
ENST00000460680.5:c.1891-113_1891-112insCCTATTGCTCGTGGGGCTTT	ENSP00000417132.1:n.1891-113_1891-112insCCTATTGCTCGTGGGGCTTT
ENST00000466093.1:n.451_452insCCTATTGCTCGTGGGGCTTT
ENST00000469613.5:c.120-143_120-142insCCTATTGCTCGTGGGGCTTT
ENST00000478368.1:c.394-44_394-43insCCTATTGCTCGTGGGGCTTT	ENSP00000420647.1:n.394-44_394-43insCCTATTGCTCGTGGGGCTTT
NM_004656.3:c.1891-113_1891-112insCCTATTGCTCGTGGGGCTTT	NP_004647.1:n.1891-113_1891-112insCCTATTGCTCGTGGGGCTTT
XM_011534149.1:c.1891-44_1891-43insCCTATTGCTCGTGGGGCTTT	XP_011532451.1:n.1891-44_1891-43insCCTATTGCTCGTGGGGCTTT
XM_011534150.1:c.1846-44_1846-43insCCTATTGCTCGTGGGGCTTT	XP_011532452.1:n.1846-44_1846-43insCCTATTGCTCGTGGGGCTTT
XM_011534151.1:c.1837-44_1837-43insCCTATTGCTCGTGGGGCTTT	XP_011532453.1:n.1837-44_1837-43insCCTATTGCTCGTGGGGCTTT
XM_011534152.1:c.1846-113_1846-112insCCTATTGCTCGTGGGGCTTT	XP_011532454.1:n.1846-113_1846-112insCCTATTGCTCGTGGGGCTTT
XM_011534149.3:c.1891-44_1891-43insCCTATTGCTCGTGGGGCTTT	XP_011532451.1:n.1891-44_1891-43insCCTATTGCTCGTGGGGCTTT
XM_011534150.3:c.1846-44_1846-43insCCTATTGCTCGTGGGGCTTT	XP_011532452.1:n.1846-44_1846-43insCCTATTGCTCGTGGGGCTTT
XM_011534151.3:c.1837-44_1837-43insCCTATTGCTCGTGGGGCTTT	XP_011532453.1:n.1837-44_1837-43insCCTATTGCTCGTGGGGCTTT
XM_011534152.2:c.1846-113_1846-112insCCTATTGCTCGTGGGGCTTT	XP_011532454.1:n.1846-113_1846-112insCCTATTGCTCGTGGGGCTTT
XM_017007303.2:c.1837-113_1837-112insCCTATTGCTCGTGGGGCTTT	XP_016862792.1:n.1837-113_1837-112insCCTATTGCTCGTGGGGCTTT
NM_004656.4:c.1891-113_1891-112insCCTATTGCTCGTGGGGCTTT MANE Select	NP_004647.1:n.1891-113_1891-112insCCTATTGCTCGTGGGGCTTT