Canonical Allele Identifier: CA2662960719

Gene: BARD1

Linked Data

• gnomAD v4: 2-214780781-G-GTACTTCATTGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780782_214780783insACTTCATTGCAT , CM000664.2:g.214780782_214780783insACTTCATTGCAT	GRCh38
NC_000002.11:g.215645506_215645507insACTTCATTGCAT , CM000664.1:g.215645506_215645507insACTTCATTGCAT	GRCh37
NC_000002.10:g.215353751_215353752insACTTCATTGCAT	NCBI36
NG_012047.2:g.33923_33924insTGCAATGAAGTA
NG_012047.3:g.33930_33931insTGCAATGAAGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1092_1093insTGCAATGAAGTA MANE Select	ENSP00000260947.4:p.Ser364_Pro365insCysAsnGluVal
ENST00000421162.2:c.215+16279_215+16280insTGCAATGAAGTA	ENSP00000392245.2:n.215+16279_215+16280insTGCAATGAAGTA
ENST00000613192.2:c.158+28630_158+28631insTGCAATGAAGTA	ENSP00000483275.2:n.158+28630_158+28631insTGCAATGAAGTA
ENST00000613374.5:c.159-28227_159-28226insTGCAATGAAGTA	ENSP00000484464.1:n.159-28227_159-28226insTGCAATGAAGTA
ENST00000613706.5:c.906+186_906+187insTGCAATGAAGTA	ENSP00000484976.2:n.906+186_906+187insTGCAATGAAGTA
ENST00000617164.5:c.1035_1036insTGCAATGAAGTA	ENSP00000480470.1:p.Ser345_Pro346insCysAsnGluVal
ENST00000619009.5:c.364+11515_364+11516insTGCAATGAAGTA	ENSP00000482293.1:n.364+11515_364+11516insTGCAATGAAGTA
ENST00000650978.1:c.934_935insTGCAATGAAGTA
ENST00000260947.8:c.1092_1093insTGCAATGAAGTA	ENSP00000260947.4:p.Ser364_Pro365insCysAsnGluVal
ENST00000421162.1:c.215+16279_215+16280insTGCAATGAAGTA	ENSP00000392245.1:n.215+16279_215+16280insTGCAATGAAGTA
ENST00000455743.5:c.*712_*713insTGCAATGAAGTA	ENSP00000412186.1:n.*712_*713insTGCAATGAAGTA
ENST00000613192.1:c.73+28630_73+28631insTGCAATGAAGTA	ENSP00000483275.1:n.73+28630_73+28631insTGCAATGAAGTA
ENST00000613374.4:c.159-28227_159-28226insTGCAATGAAGTA	ENSP00000484464.1:n.159-28227_159-28226insTGCAATGAAGTA
ENST00000613706.4:c.215+16279_215+16280insTGCAATGAAGTA	ENSP00000484976.1:n.215+16279_215+16280insTGCAATGAAGTA
ENST00000617164.4:c.1035_1036insTGCAATGAAGTA	ENSP00000480470.1:p.Ser345_Pro346insCysAsnGluVal
ENST00000619009.4:c.364+11515_364+11516insTGCAATGAAGTA	ENSP00000482293.1:n.364+11515_364+11516insTGCAATGAAGTA
ENST00000620057.4:c.365-11470_365-11469insTGCAATGAAGTA	ENSP00000481988.1:n.365-11470_365-11469insTGCAATGAAGTA
NM_000465.3:c.1092_1093insTGCAATGAAGTA	NP_000456.2:p.Ser364_Pro365insCysAsnGluVal
NM_001282543.1:c.1035_1036insTGCAATGAAGTA	NP_001269472.1:p.Ser345_Pro346insCysAsnGluVal
NM_001282545.1:c.215+16279_215+16280insTGCAATGAAGTA	NP_001269474.1:n.215+16279_215+16280insTGCAATGAAGTA
NM_001282548.1:c.159-28227_159-28226insTGCAATGAAGTA	NP_001269477.1:n.159-28227_159-28226insTGCAATGAAGTA
NM_001282549.1:c.364+11515_364+11516insTGCAATGAAGTA	NP_001269478.1:n.364+11515_364+11516insTGCAATGAAGTA
NR_104212.1:n.1085_1086insTGCAATGAAGTA
NR_104215.1:n.1028_1029insTGCAATGAAGTA
NR_104216.1:n.507-11470_507-11469insTGCAATGAAGTA
XM_011511567.1:c.1038_1039insTGCAATGAAGTA	XP_011509869.1:p.Ser346_Pro347insCysAsnGluVal
XM_011511568.1:c.1092_1093insTGCAATGAAGTA	XP_011509870.1:p.Ser364_Pro365insCysAsnGluVal
XM_017004613.1:c.1191_1192insTGCAATGAAGTA	XP_016860102.1:p.Ser397_Pro398insCysAsnGluVal
XM_017004614.1:c.1191_1192insTGCAATGAAGTA	XP_016860103.1:p.Ser397_Pro398insCysAsnGluVal
XR_002959322.1:n.1282_1283insTGCAATGAAGTA
NM_000465.4:c.1092_1093insTGCAATGAAGTA MANE Select	NP_000456.2:p.Ser364_Pro365insCysAsnGluVal
NM_001282543.2:c.1035_1036insTGCAATGAAGTA	NP_001269472.1:p.Ser345_Pro346insCysAsnGluVal
NM_001282545.2:c.215+16279_215+16280insTGCAATGAAGTA	NP_001269474.1:n.215+16279_215+16280insTGCAATGAAGTA
NM_001282548.2:c.159-28227_159-28226insTGCAATGAAGTA	NP_001269477.1:n.159-28227_159-28226insTGCAATGAAGTA
NM_001282549.2:c.364+11515_364+11516insTGCAATGAAGTA	NP_001269478.1:n.364+11515_364+11516insTGCAATGAAGTA
NR_104212.2:n.1057_1058insTGCAATGAAGTA
NR_104215.2:n.1000_1001insTGCAATGAAGTA
NR_104216.2:n.479-11470_479-11469insTGCAATGAAGTA