Canonical Allele Identifier: CA915941709

Gene: BARD1

Linked Data

• ClinVar Variation Id: 800344
• ClinVar RCV Id: RCV000984124
• dbSNP Id: rs1574706907

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730450_214730470del , CM000664.2:g.214730450_214730470del	GRCh38
NC_000002.11:g.215595174_215595194del , CM000664.1:g.215595174_215595194del	GRCh37
NC_000002.10:g.215303419_215303439del	NCBI36
NG_012047.2:g.84239_84259del
NG_012047.3:g.84246_84266del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1946_1966del MANE Select	ENSP00000260947.4:p.Glu649_Glu655del
ENST00000421162.2:c.593_613del	ENSP00000392245.2:p.Glu198_Glu204del
ENST00000613192.2:c.*9_*29del	ENSP00000483275.2:n.*9_*29del
ENST00000613374.5:c.536_556del	ENSP00000484464.1:p.Glu179_Glu185del
ENST00000613706.5:c.1538_1558del	ENSP00000484976.2:p.Glu513_Glu519del
ENST00000617164.5:c.1889_1909del	ENSP00000480470.1:p.Glu630_Glu636del
ENST00000619009.5:c.407_427del	ENSP00000482293.1:p.Glu136_Glu142del
ENST00000650978.1:c.3321_3341del
ENST00000260947.8:c.1946_1966del	ENSP00000260947.4:p.Glu649_Glu655del
ENST00000421162.1:c.593_613del	ENSP00000392245.1:p.Glu198_Glu204del
ENST00000432456.5:c.43_63del
ENST00000455743.5:c.*1566_*1586del	ENSP00000412186.1:n.*1566_*1586del
ENST00000471590.5:n.281_301del
ENST00000613192.1:c.116_136del	ENSP00000483275.1:p.Glu39_Glu45del
ENST00000613374.4:c.536_556del	ENSP00000484464.1:p.Glu179_Glu185del
ENST00000613706.4:c.593_613del	ENSP00000484976.1:p.Glu198_Glu204del
ENST00000617164.4:c.1889_1909del	ENSP00000480470.1:p.Glu630_Glu636del
ENST00000619009.4:c.407_427del	ENSP00000482293.1:p.Glu136_Glu142del
ENST00000620057.4:c.*612_*632del	ENSP00000481988.1:n.*612_*632del
NM_000465.3:c.1946_1966del	NP_000456.2:p.Glu649_Glu655del
NM_001282543.1:c.1889_1909del	NP_001269472.1:p.Glu630_Glu636del
NM_001282545.1:c.593_613del	NP_001269474.1:p.Glu198_Glu204del
NM_001282548.1:c.536_556del	NP_001269477.1:p.Glu179_Glu185del
NM_001282549.1:c.407_427del	NP_001269478.1:p.Glu136_Glu142del
NR_104212.1:n.1939_1959del
NR_104215.1:n.1882_1902del
NR_104216.1:n.1138_1158del
XM_011511567.1:c.1892_1912del	XP_011509869.1:p.Glu631_Glu637del
XM_017004613.1:c.2045_2065del	XP_016860102.1:p.Glu682_Glu688del
XR_002959322.1:n.2136_2156del
NM_000465.4:c.1946_1966del MANE Select	NP_000456.2:p.Glu649_Glu655del
NM_001282543.2:c.1889_1909del	NP_001269472.1:p.Glu630_Glu636del
NM_001282545.2:c.593_613del	NP_001269474.1:p.Glu198_Glu204del
NM_001282548.2:c.536_556del	NP_001269477.1:p.Glu179_Glu185del
NM_001282549.2:c.407_427del	NP_001269478.1:p.Glu136_Glu142del
NR_104212.2:n.1911_1931del
NR_104215.2:n.1854_1874del
NR_104216.2:n.1110_1130del