Canonical Allele Identifier: CA2436745

Gene: BAP1

Linked Data

• dbSNP Id: rs749056622
• ExAC: 3:52437413 G / GATGCAACCCAAATCATCTTCTGCAGGC
• gnomAD v2: 3-52437413-G-GATGCAACCCAAATCATCTTCTGCAGGC
• MyVariant Identifiers: chr3:g.52437413_52437414insATGCAACCCAAATCATCTTCTGCAGGC (hg19) ; chr3:g.52403397_52403398insATGCAACCCAAATCATCTTCTGCAGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403398_52403399insTGCAACCCAAATCATCTTCTGCAGGCA , CM000665.2:g.52403398_52403399insTGCAACCCAAATCATCTTCTGCAGGCA	GRCh38
NC_000003.11:g.52437414_52437415insTGCAACCCAAATCATCTTCTGCAGGCA , CM000665.1:g.52437414_52437415insTGCAACCCAAATCATCTTCTGCAGGCA	GRCh37
NC_000003.10:g.52412454_52412455insTGCAACCCAAATCATCTTCTGCAGGCA	NCBI36
NG_031859.1:g.11596_11597insGCCTGCAGAAGATGATTTGGGTTGCAT , LRG_529:g.11596_11597insGCCTGCAGAAGATGATTTGGGTTGCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1729+18_1729+19insGCCTGCAGAAGATGATTTGGGTTGCAT MANE Select	ENSP00000417132.1:n.1729+18_1729+19insGCCTGCAGAAGATGATTTGGGTT...
ENST00000296288.9:c.1675+18_1675+19insGCCTGCAGAAGATGATTTGGGTTGCAT	ENSP00000296288.5:n.1675+18_1675+19insGCCTGCAGAAGATGATTTGGGTT...
ENST00000460680.5:c.1729+18_1729+19insGCCTGCAGAAGATGATTTGGGTTGCAT	ENSP00000417132.1:n.1729+18_1729+19insGCCTGCAGAAGATGATTTGGGTT...
ENST00000466093.1:n.136+18_136+19insGCCTGCAGAAGATGATTTGGGTTGCAT
ENST00000469613.5:c.119+403_119+404insGCCTGCAGAAGATGATTTGGGTTGCAT
ENST00000478368.1:c.232+18_232+19insGCCTGCAGAAGATGATTTGGGTTGCAT	ENSP00000420647.1:n.232+18_232+19insGCCTGCAGAAGATGATTTGGGTTGC...
NM_004656.3:c.1729+18_1729+19insGCCTGCAGAAGATGATTTGGGTTGCAT	NP_004647.1:n.1729+18_1729+19insGCCTGCAGAAGATGATTTGGGTTGCAT
XM_011534149.1:c.1729+18_1729+19insGCCTGCAGAAGATGATTTGGGTTGCAT	XP_011532451.1:n.1729+18_1729+19insGCCTGCAGAAGATGATTTGGGTTGCA...
XM_011534150.1:c.1729+18_1729+19insGCCTGCAGAAGATGATTTGGGTTGCAT	XP_011532452.1:n.1729+18_1729+19insGCCTGCAGAAGATGATTTGGGTTGCA...
XM_011534151.1:c.1675+18_1675+19insGCCTGCAGAAGATGATTTGGGTTGCAT	XP_011532453.1:n.1675+18_1675+19insGCCTGCAGAAGATGATTTGGGTTGCA...
XM_011534152.1:c.1729+18_1729+19insGCCTGCAGAAGATGATTTGGGTTGCAT	XP_011532454.1:n.1729+18_1729+19insGCCTGCAGAAGATGATTTGGGTTGCA...
XM_011534149.3:c.1729+18_1729+19insGCCTGCAGAAGATGATTTGGGTTGCAT	XP_011532451.1:n.1729+18_1729+19insGCCTGCAGAAGATGATTTGGGTTGCA...
XM_011534150.3:c.1729+18_1729+19insGCCTGCAGAAGATGATTTGGGTTGCAT	XP_011532452.1:n.1729+18_1729+19insGCCTGCAGAAGATGATTTGGGTTGCA...
XM_011534151.3:c.1675+18_1675+19insGCCTGCAGAAGATGATTTGGGTTGCAT	XP_011532453.1:n.1675+18_1675+19insGCCTGCAGAAGATGATTTGGGTTGCA...
XM_011534152.2:c.1729+18_1729+19insGCCTGCAGAAGATGATTTGGGTTGCAT	XP_011532454.1:n.1729+18_1729+19insGCCTGCAGAAGATGATTTGGGTTGCA...
XM_017007303.2:c.1675+18_1675+19insGCCTGCAGAAGATGATTTGGGTTGCAT	XP_016862792.1:n.1675+18_1675+19insGCCTGCAGAAGATGATTTGGGTTGCA...
NM_004656.4:c.1729+18_1729+19insGCCTGCAGAAGATGATTTGGGTTGCAT MANE Select	NP_004647.1:n.1729+18_1729+19insGCCTGCAGAAGATGATTTGGGTTGCAT