Canonical Allele Identifier: CA764566926

Gene: BARD1

Linked Data

• dbSNP Id: rs1211956734
• gnomAD v3: 2-214744797-ATT-A
• gnomAD v4: 2-214744797-ATT-A
• MyVariant Identifiers: chr2:g.215609522_215609523del (hg19) ; chr2:g.214744798_214744799del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214744803_214744804del , CM000664.2:g.214744803_214744804del	GRCh38
NC_000002.11:g.215609527_215609528del , CM000664.1:g.215609527_215609528del	GRCh37
NC_000002.10:g.215317772_215317773del	NCBI36
NG_012047.2:g.69906_69907del
NG_012047.3:g.69913_69914del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1903+268_1903+269del MANE Select	ENSP00000260947.4:n.1903+268_1903+269del
ENST00000421162.2:c.550+268_550+269del	ENSP00000392245.2:n.550+268_550+269del
ENST00000613192.2:c.159-14291_159-14290del	ENSP00000483275.2:n.159-14291_159-14290del
ENST00000613374.5:c.493+268_493+269del	ENSP00000484464.1:n.493+268_493+269del
ENST00000613706.5:c.1495+268_1495+269del	ENSP00000484976.2:n.1495+268_1495+269del
ENST00000617164.5:c.1846+268_1846+269del	ENSP00000480470.1:n.1846+268_1846+269del
ENST00000619009.5:c.365-14291_365-14290del	ENSP00000482293.1:n.365-14291_365-14290del
ENST00000650978.1:c.3278+268_3278+269del
ENST00000260947.8:c.1903+268_1903+269del	ENSP00000260947.4:n.1903+268_1903+269del
ENST00000421162.1:c.550+268_550+269del	ENSP00000392245.1:n.550+268_550+269del
ENST00000455743.5:c.*1523+268_*1523+269del	ENSP00000412186.1:n.*1523+268_*1523+269del
ENST00000613192.1:c.74-14291_74-14290del	ENSP00000483275.1:n.74-14291_74-14290del
ENST00000613374.4:c.493+268_493+269del	ENSP00000484464.1:n.493+268_493+269del
ENST00000613706.4:c.550+268_550+269del	ENSP00000484976.1:n.550+268_550+269del
ENST00000617164.4:c.1846+268_1846+269del	ENSP00000480470.1:n.1846+268_1846+269del
ENST00000619009.4:c.365-14291_365-14290del	ENSP00000482293.1:n.365-14291_365-14290del
ENST00000620057.4:c.*569+268_*569+269del	ENSP00000481988.1:n.*569+268_*569+269del
NM_000465.3:c.1903+268_1903+269del	NP_000456.2:n.1903+268_1903+269del
NM_001282543.1:c.1846+268_1846+269del	NP_001269472.1:n.1846+268_1846+269del
NM_001282545.1:c.550+268_550+269del	NP_001269474.1:n.550+268_550+269del
NM_001282548.1:c.493+268_493+269del	NP_001269477.1:n.493+268_493+269del
NM_001282549.1:c.365-14291_365-14290del	NP_001269478.1:n.365-14291_365-14290del
NR_104212.1:n.1896+268_1896+269del
NR_104215.1:n.1839+268_1839+269del
NR_104216.1:n.1095+268_1095+269del
XM_011511567.1:c.1849+268_1849+269del	XP_011509869.1:n.1849+268_1849+269del
XM_011511568.1:c.1903+268_1903+269del	XP_011509870.1:n.1903+268_1903+269del
XM_017004613.1:c.2002+268_2002+269del	XP_016860102.1:n.2002+268_2002+269del
XM_017004614.1:c.2002+268_2002+269del	XP_016860103.1:n.2002+268_2002+269del
XR_002959322.1:n.2093+268_2093+269del
NM_000465.4:c.1903+268_1903+269del MANE Select	NP_000456.2:n.1903+268_1903+269del
NM_001282543.2:c.1846+268_1846+269del	NP_001269472.1:n.1846+268_1846+269del
NM_001282545.2:c.550+268_550+269del	NP_001269474.1:n.550+268_550+269del
NM_001282548.2:c.493+268_493+269del	NP_001269477.1:n.493+268_493+269del
NM_001282549.2:c.365-14291_365-14290del	NP_001269478.1:n.365-14291_365-14290del
NR_104212.2:n.1868+268_1868+269del
NR_104215.2:n.1811+268_1811+269del
NR_104216.2:n.1067+268_1067+269del