Canonical Allele Identifier: CA1364835659
Gene: BAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403192_52403193delinsCT , CM000665.2:g.52403192_52403193delinsCT GRCh38
NC_000003.11:g.52437208_52437209delinsCT , CM000665.1:g.52437208_52437209delinsCT GRCh37
NC_000003.10:g.52412248_52412249delinsCT NCBI36
NG_031859.1:g.11801_11802delinsAG , LRG_529:g.11801_11802delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1835_1836delinsAG MANE Select ENSP00000417132.1:p.Lys612=
ENST00000296288.9:c.1781_1782delinsAG ENSP00000296288.5:p.Lys594=
ENST00000460680.5:c.1835_1836delinsAG ENSP00000417132.1:p.Lys612=
ENST00000466093.1:n.242_243delinsAG
ENST00000469613.5:c.120-352_120-351delinsAG
ENST00000478368.1:c.338_339delinsAG ENSP00000420647.1:p.Lys113=
NM_004656.3:c.1835_1836delinsAG NP_004647.1:p.Lys612=
XM_011534149.1:c.1835_1836delinsAG XP_011532451.1:p.Lys612=
XM_011534150.1:c.1835_1836delinsAG XP_011532452.1:p.Lys612=
XM_011534151.1:c.1781_1782delinsAG XP_011532453.1:p.Lys594=
XM_011534152.1:c.1835_1836delinsAG XP_011532454.1:p.Lys612=
XM_011534149.3:c.1835_1836delinsAG XP_011532451.1:p.Lys612=
XM_011534150.3:c.1835_1836delinsAG XP_011532452.1:p.Lys612=
XM_011534151.3:c.1781_1782delinsAG XP_011532453.1:p.Lys594=
XM_011534152.2:c.1835_1836delinsAG XP_011532454.1:p.Lys612=
XM_017007303.2:c.1781_1782delinsAG XP_016862792.1:p.Lys594=
NM_004656.4:c.1835_1836delinsAG MANE Select NP_004647.1:p.Lys612=