Canonical Allele Identifier: CA2662970854

Gene: BARD1

Linked Data

• gnomAD v4: 2-214730114-AAGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730121_214730123del , CM000664.2:g.214730121_214730123del	GRCh38
NC_000002.11:g.215594845_215594847del , CM000664.1:g.215594845_215594847del	GRCh37
NC_000002.10:g.215303090_215303092del	NCBI36
NG_012047.2:g.84588_84590del
NG_012047.3:g.84595_84597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2001+294_2001+296del MANE Select	ENSP00000260947.4:n.2001+294_2001+296del
ENST00000421162.2:c.648+294_648+296del	ENSP00000392245.2:n.648+294_648+296del
ENST00000613192.2:c.*64+294_*64+296del	ENSP00000483275.2:n.*64+294_*64+296del
ENST00000613374.5:c.591+294_591+296del	ENSP00000484464.1:n.591+294_591+296del
ENST00000613706.5:c.1593+294_1593+296del	ENSP00000484976.2:n.1593+294_1593+296del
ENST00000617164.5:c.1944+294_1944+296del	ENSP00000480470.1:n.1944+294_1944+296del
ENST00000619009.5:c.462+294_462+296del	ENSP00000482293.1:n.462+294_462+296del
ENST00000650978.1:c.3376+294_3376+296del
ENST00000260947.8:c.2001+294_2001+296del	ENSP00000260947.4:n.2001+294_2001+296del
ENST00000432456.5:c.144+118_144+120del
ENST00000455743.5:c.*1621+294_*1621+296del	ENSP00000412186.1:n.*1621+294_*1621+296del
ENST00000471590.5:n.336+294_336+296del
ENST00000613192.1:c.171+294_171+296del	ENSP00000483275.1:n.171+294_171+296del
ENST00000613374.4:c.591+294_591+296del	ENSP00000484464.1:n.591+294_591+296del
ENST00000613706.4:c.648+294_648+296del	ENSP00000484976.1:n.648+294_648+296del
ENST00000617164.4:c.1944+294_1944+296del	ENSP00000480470.1:n.1944+294_1944+296del
ENST00000619009.4:c.462+294_462+296del	ENSP00000482293.1:n.462+294_462+296del
ENST00000620057.4:c.*667+294_*667+296del	ENSP00000481988.1:n.*667+294_*667+296del
NM_000465.3:c.2001+294_2001+296del	NP_000456.2:n.2001+294_2001+296del
NM_001282543.1:c.1944+294_1944+296del	NP_001269472.1:n.1944+294_1944+296del
NM_001282545.1:c.648+294_648+296del	NP_001269474.1:n.648+294_648+296del
NM_001282548.1:c.591+294_591+296del	NP_001269477.1:n.591+294_591+296del
NM_001282549.1:c.462+294_462+296del	NP_001269478.1:n.462+294_462+296del
NR_104212.1:n.1994+294_1994+296del
NR_104215.1:n.1937+294_1937+296del
NR_104216.1:n.1193+294_1193+296del
XM_011511567.1:c.1947+294_1947+296del	XP_011509869.1:n.1947+294_1947+296del
XM_017004613.1:c.2100+294_2100+296del	XP_016860102.1:n.2100+294_2100+296del
XR_002959322.1:n.2367+118_2367+120del
NM_000465.4:c.2001+294_2001+296del MANE Select	NP_000456.2:n.2001+294_2001+296del
NM_001282543.2:c.1944+294_1944+296del	NP_001269472.1:n.1944+294_1944+296del
NM_001282545.2:c.648+294_648+296del	NP_001269474.1:n.648+294_648+296del
NM_001282548.2:c.591+294_591+296del	NP_001269477.1:n.591+294_591+296del
NM_001282549.2:c.462+294_462+296del	NP_001269478.1:n.462+294_462+296del
NR_104212.2:n.1966+294_1966+296del
NR_104215.2:n.1909+294_1909+296del
NR_104216.2:n.1165+294_1165+296del