Canonical Allele Identifier: CA2754203381
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730174_214730175insAGC , CM000664.2:g.214730174_214730175insAGC GRCh38
NC_000002.11:g.215594898_215594899insAGC , CM000664.1:g.215594898_215594899insAGC GRCh37
NC_000002.10:g.215303143_215303144insAGC NCBI36
NG_012047.2:g.84531_84532insCTG
NG_012047.3:g.84538_84539insCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2001+237_2001+238insCTG MANE Select ENSP00000260947.4:n.2001+237_2001+238insCTG
ENST00000421162.2:c.648+237_648+238insCTG ENSP00000392245.2:n.648+237_648+238insCTG
ENST00000613192.2:c.*64+237_*64+238insCTG ENSP00000483275.2:n.*64+237_*64+238insCTG
ENST00000613374.5:c.591+237_591+238insCTG ENSP00000484464.1:n.591+237_591+238insCTG
ENST00000613706.5:c.1593+237_1593+238insCTG ENSP00000484976.2:n.1593+237_1593+238insCTG
ENST00000617164.5:c.1944+237_1944+238insCTG ENSP00000480470.1:n.1944+237_1944+238insCTG
ENST00000619009.5:c.462+237_462+238insCTG ENSP00000482293.1:n.462+237_462+238insCTG
ENST00000650978.1:c.3376+237_3376+238insCTG
ENST00000260947.8:c.2001+237_2001+238insCTG ENSP00000260947.4:n.2001+237_2001+238insCTG
ENST00000432456.5:c.144+61_144+62insCTG
ENST00000455743.5:c.*1621+237_*1621+238insCTG ENSP00000412186.1:n.*1621+237_*1621+238insCTG
ENST00000471590.5:n.336+237_336+238insCTG
ENST00000613192.1:c.171+237_171+238insCTG ENSP00000483275.1:n.171+237_171+238insCTG
ENST00000613374.4:c.591+237_591+238insCTG ENSP00000484464.1:n.591+237_591+238insCTG
ENST00000613706.4:c.648+237_648+238insCTG ENSP00000484976.1:n.648+237_648+238insCTG
ENST00000617164.4:c.1944+237_1944+238insCTG ENSP00000480470.1:n.1944+237_1944+238insCTG
ENST00000619009.4:c.462+237_462+238insCTG ENSP00000482293.1:n.462+237_462+238insCTG
ENST00000620057.4:c.*667+237_*667+238insCTG ENSP00000481988.1:n.*667+237_*667+238insCTG
NM_000465.3:c.2001+237_2001+238insCTG NP_000456.2:n.2001+237_2001+238insCTG
NM_001282543.1:c.1944+237_1944+238insCTG NP_001269472.1:n.1944+237_1944+238insCTG
NM_001282545.1:c.648+237_648+238insCTG NP_001269474.1:n.648+237_648+238insCTG
NM_001282548.1:c.591+237_591+238insCTG NP_001269477.1:n.591+237_591+238insCTG
NM_001282549.1:c.462+237_462+238insCTG NP_001269478.1:n.462+237_462+238insCTG
NR_104212.1:n.1994+237_1994+238insCTG
NR_104215.1:n.1937+237_1937+238insCTG
NR_104216.1:n.1193+237_1193+238insCTG
XM_011511567.1:c.1947+237_1947+238insCTG XP_011509869.1:n.1947+237_1947+238insCTG
XM_017004613.1:c.2100+237_2100+238insCTG XP_016860102.1:n.2100+237_2100+238insCTG
XR_002959322.1:n.2367+61_2367+62insCTG
NM_000465.4:c.2001+237_2001+238insCTG MANE Select NP_000456.2:n.2001+237_2001+238insCTG
NM_001282543.2:c.1944+237_1944+238insCTG NP_001269472.1:n.1944+237_1944+238insCTG
NM_001282545.2:c.648+237_648+238insCTG NP_001269474.1:n.648+237_648+238insCTG
NM_001282548.2:c.591+237_591+238insCTG NP_001269477.1:n.591+237_591+238insCTG
NM_001282549.2:c.462+237_462+238insCTG NP_001269478.1:n.462+237_462+238insCTG
NR_104212.2:n.1966+237_1966+238insCTG
NR_104215.2:n.1909+237_1909+238insCTG
NR_104216.2:n.1165+237_1165+238insCTG