Canonical Allele Identifier: CA1327046248
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730179_214730204delinsAGGTTTATGGCAATGTTCAAGATGCC , CM000664.2:g.214730179_214730204delinsAGGTTTATGGCAATGTTCAAGATGCC GRCh38
NC_000002.11:g.215594903_215594928delinsAGGTTTATGGCAATGTTCAAGATGCC , CM000664.1:g.215594903_215594928delinsAGGTTTATGGCAATGTTCAAGATGCC GRCh37
NC_000002.10:g.215303148_215303173delinsAGGTTTATGGCAATGTTCAAGATGCC NCBI36
NG_012047.2:g.84501_84526delinsGGCATCTTGAACATTGCCATAAACCT
NG_012047.3:g.84508_84533delinsGGCATCTTGAACATTGCCATAAACCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2001+207_2001+232delinsGGCATCTTGAACATTGCCATAAACCT MANE Select ENSP00000260947.4:n.2001+207_2001+232delinsGGCATCTTGAACATTGCC...
ENST00000421162.2:c.648+207_648+232delinsGGCATCTTGAACATTGCCATAAACCT ENSP00000392245.2:n.648+207_648+232delinsGGCATCTTGAACATTGCCAT...
ENST00000613192.2:c.*64+207_*64+232delinsGGCATCTTGAACATTGCCATAAACCT ENSP00000483275.2:n.*64+207_*64+232delinsGGCATCTTGAACATTGCCAT...
ENST00000613374.5:c.591+207_591+232delinsGGCATCTTGAACATTGCCATAAACCT ENSP00000484464.1:n.591+207_591+232delinsGGCATCTTGAACATTGCCAT...
ENST00000613706.5:c.1593+207_1593+232delinsGGCATCTTGAACATTGCCATAAACCT ENSP00000484976.2:n.1593+207_1593+232delinsGGCATCTTGAACATTGCC...
ENST00000617164.5:c.1944+207_1944+232delinsGGCATCTTGAACATTGCCATAAACCT ENSP00000480470.1:n.1944+207_1944+232delinsGGCATCTTGAACATTGCC...
ENST00000619009.5:c.462+207_462+232delinsGGCATCTTGAACATTGCCATAAACCT ENSP00000482293.1:n.462+207_462+232delinsGGCATCTTGAACATTGCCAT...
ENST00000650978.1:c.3376+207_3376+232delinsGGCATCTTGAACATTGCCATAAACCT
ENST00000260947.8:c.2001+207_2001+232delinsGGCATCTTGAACATTGCCATAAACCT ENSP00000260947.4:n.2001+207_2001+232delinsGGCATCTTGAACATTGCC...
ENST00000432456.5:c.144+31_144+56delinsGGCATCTTGAACATTGCCATAAACCT
ENST00000455743.5:c.*1621+207_*1621+232delinsGGCATCTTGAACATTGCCATAAACCT ENSP00000412186.1:n.*1621+207_*1621+232delinsGGCATCTTGAACATTG...
ENST00000471590.5:n.336+207_336+232delinsGGCATCTTGAACATTGCCATAAACCT
ENST00000613192.1:c.171+207_171+232delinsGGCATCTTGAACATTGCCATAAACCT ENSP00000483275.1:n.171+207_171+232delinsGGCATCTTGAACATTGCCAT...
ENST00000613374.4:c.591+207_591+232delinsGGCATCTTGAACATTGCCATAAACCT ENSP00000484464.1:n.591+207_591+232delinsGGCATCTTGAACATTGCCAT...
ENST00000613706.4:c.648+207_648+232delinsGGCATCTTGAACATTGCCATAAACCT ENSP00000484976.1:n.648+207_648+232delinsGGCATCTTGAACATTGCCAT...
ENST00000617164.4:c.1944+207_1944+232delinsGGCATCTTGAACATTGCCATAAACCT ENSP00000480470.1:n.1944+207_1944+232delinsGGCATCTTGAACATTGCC...
ENST00000619009.4:c.462+207_462+232delinsGGCATCTTGAACATTGCCATAAACCT ENSP00000482293.1:n.462+207_462+232delinsGGCATCTTGAACATTGCCAT...
ENST00000620057.4:c.*667+207_*667+232delinsGGCATCTTGAACATTGCCATAAACCT ENSP00000481988.1:n.*667+207_*667+232delinsGGCATCTTGAACATTGCC...
NM_000465.3:c.2001+207_2001+232delinsGGCATCTTGAACATTGCCATAAACCT NP_000456.2:n.2001+207_2001+232delinsGGCATCTTGAACATTGCCATAAAC...
NM_001282543.1:c.1944+207_1944+232delinsGGCATCTTGAACATTGCCATAAACCT NP_001269472.1:n.1944+207_1944+232delinsGGCATCTTGAACATTGCCATA...
NM_001282545.1:c.648+207_648+232delinsGGCATCTTGAACATTGCCATAAACCT NP_001269474.1:n.648+207_648+232delinsGGCATCTTGAACATTGCCATAAA...
NM_001282548.1:c.591+207_591+232delinsGGCATCTTGAACATTGCCATAAACCT NP_001269477.1:n.591+207_591+232delinsGGCATCTTGAACATTGCCATAAA...
NM_001282549.1:c.462+207_462+232delinsGGCATCTTGAACATTGCCATAAACCT NP_001269478.1:n.462+207_462+232delinsGGCATCTTGAACATTGCCATAAA...
NR_104212.1:n.1994+207_1994+232delinsGGCATCTTGAACATTGCCATAAACCT
NR_104215.1:n.1937+207_1937+232delinsGGCATCTTGAACATTGCCATAAACCT
NR_104216.1:n.1193+207_1193+232delinsGGCATCTTGAACATTGCCATAAACCT
XM_011511567.1:c.1947+207_1947+232delinsGGCATCTTGAACATTGCCATAAACCT XP_011509869.1:n.1947+207_1947+232delinsGGCATCTTGAACATTGCCATA...
XM_017004613.1:c.2100+207_2100+232delinsGGCATCTTGAACATTGCCATAAACCT XP_016860102.1:n.2100+207_2100+232delinsGGCATCTTGAACATTGCCATA...
XR_002959322.1:n.2367+31_2367+56delinsGGCATCTTGAACATTGCCATAAACCT
NM_000465.4:c.2001+207_2001+232delinsGGCATCTTGAACATTGCCATAAACCT MANE Select NP_000456.2:n.2001+207_2001+232delinsGGCATCTTGAACATTGCCATAAAC...
NM_001282543.2:c.1944+207_1944+232delinsGGCATCTTGAACATTGCCATAAACCT NP_001269472.1:n.1944+207_1944+232delinsGGCATCTTGAACATTGCCATA...
NM_001282545.2:c.648+207_648+232delinsGGCATCTTGAACATTGCCATAAACCT NP_001269474.1:n.648+207_648+232delinsGGCATCTTGAACATTGCCATAAA...
NM_001282548.2:c.591+207_591+232delinsGGCATCTTGAACATTGCCATAAACCT NP_001269477.1:n.591+207_591+232delinsGGCATCTTGAACATTGCCATAAA...
NM_001282549.2:c.462+207_462+232delinsGGCATCTTGAACATTGCCATAAACCT NP_001269478.1:n.462+207_462+232delinsGGCATCTTGAACATTGCCATAAA...
NR_104212.2:n.1966+207_1966+232delinsGGCATCTTGAACATTGCCATAAACCT
NR_104215.2:n.1909+207_1909+232delinsGGCATCTTGAACATTGCCATAAACCT
NR_104216.2:n.1165+207_1165+232delinsGGCATCTTGAACATTGCCATAAACCT