Canonical Allele Identifier: CA2580065603

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1789295
• ClinVar RCV Id: RCV002446333

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728707_214728709delinsGATGT , CM000664.2:g.214728707_214728709delinsGATGT	GRCh38
NC_000002.11:g.215593431_215593433delinsGATGT , CM000664.1:g.215593431_215593433delinsGATGT	GRCh37
NC_000002.10:g.215301676_215301678delinsGATGT	NCBI36
NG_012047.2:g.85996_85998delinsACATC
NG_012047.3:g.86003_86005delinsACATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2301_2303delinsACATC MANE Select	ENSP00000260947.4:p.Met768HisfsTer17
ENST00000421162.2:c.948_950delinsACATC	ENSP00000392245.2:p.Met317HisfsTer?
ENST00000613192.2:c.*364_*366delinsACATC	ENSP00000483275.2:n.*364_*366delinsACATC
ENST00000613374.5:c.891_893delinsACATC	ENSP00000484464.1:p.Met298HisfsTer17
ENST00000613706.5:c.1893_1895delinsACATC	ENSP00000484976.2:p.Met632HisfsTer17
ENST00000617164.5:c.2244_2246delinsACATC	ENSP00000480470.1:p.Met749HisfsTer17
ENST00000619009.5:c.762_764delinsACATC	ENSP00000482293.1:p.Met255HisfsTer17
ENST00000650978.1:c.3676_3678delinsACATC
ENST00000260947.8:c.2301_2303delinsACATC	ENSP00000260947.4:p.Met768HisfsTer17
ENST00000432456.5:c.444_446delinsACATC
ENST00000455743.5:c.*1921_*1923delinsACATC	ENSP00000412186.1:n.*1921_*1923delinsACATC
ENST00000471590.5:n.636_638delinsACATC
ENST00000613192.1:c.471_473delinsACATC	ENSP00000483275.1:p.Met158HisfsTer?
ENST00000613374.4:c.891_893delinsACATC	ENSP00000484464.1:p.Met298HisfsTer17
ENST00000613706.4:c.948_950delinsACATC	ENSP00000484976.1:p.Met317HisfsTer17
ENST00000617164.4:c.2244_2246delinsACATC	ENSP00000480470.1:p.Met749HisfsTer17
ENST00000619009.4:c.762_764delinsACATC	ENSP00000482293.1:p.Met255HisfsTer17
ENST00000620057.4:c.*967_*969delinsACATC	ENSP00000481988.1:n.*967_*969delinsACATC
NM_000465.3:c.2301_2303delinsACATC	NP_000456.2:p.Met768HisfsTer17
NM_001282543.1:c.2244_2246delinsACATC	NP_001269472.1:p.Met749HisfsTer17
NM_001282545.1:c.948_950delinsACATC	NP_001269474.1:p.Met317HisfsTer17
NM_001282548.1:c.891_893delinsACATC	NP_001269477.1:p.Met298HisfsTer17
NM_001282549.1:c.762_764delinsACATC	NP_001269478.1:p.Met255HisfsTer17
NR_104212.1:n.2294_2296delinsACATC
NR_104215.1:n.2237_2239delinsACATC
NR_104216.1:n.1493_1495delinsACATC
XM_011511567.1:c.2247_2249delinsACATC	XP_011509869.1:p.Met750HisfsTer17
XM_017004613.1:c.2400_2402delinsACATC	XP_016860102.1:p.Met801HisfsTer17
XR_002959322.1:n.2667_2669delinsACATC
NM_000465.4:c.2301_2303delinsACATC MANE Select	NP_000456.2:p.Met768HisfsTer17
NM_001282543.2:c.2244_2246delinsACATC	NP_001269472.1:p.Met749HisfsTer17
NM_001282545.2:c.948_950delinsACATC	NP_001269474.1:p.Met317HisfsTer17
NM_001282548.2:c.891_893delinsACATC	NP_001269477.1:p.Met298HisfsTer17
NM_001282549.2:c.762_764delinsACATC	NP_001269478.1:p.Met255HisfsTer17
NR_104212.2:n.2266_2268delinsACATC
NR_104215.2:n.2209_2211delinsACATC
NR_104216.2:n.1465_1467delinsACATC