Canonical Allele Identifier: CA1327053363
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214745142_214745145delinsGAAC , CM000664.2:g.214745142_214745145delinsGAAC GRCh38
NC_000002.11:g.215609866_215609869delinsGAAC , CM000664.1:g.215609866_215609869delinsGAAC GRCh37
NC_000002.10:g.215318111_215318114delinsGAAC NCBI36
NG_012047.2:g.69560_69563delinsGTTC
NG_012047.3:g.69567_69570delinsGTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1825_1828delinsGTTC MANE Select ENSP00000260947.4:p.Val609=
ENST00000421162.2:c.472_475delinsGTTC ENSP00000392245.2:p.Val158=
ENST00000613192.2:c.159-14637_159-14634delinsGTTC ENSP00000483275.2:n.159-14637_159-14634delinsGTTC
ENST00000613374.5:c.415_418delinsGTTC ENSP00000484464.1:p.Val139=
ENST00000613706.5:c.1417_1420delinsGTTC ENSP00000484976.2:p.Val473=
ENST00000617164.5:c.1768_1771delinsGTTC ENSP00000480470.1:p.Val590=
ENST00000619009.5:c.365-14637_365-14634delinsGTTC ENSP00000482293.1:n.365-14637_365-14634delinsGTTC
ENST00000650978.1:c.3200_3203delinsGTTC
ENST00000260947.8:c.1825_1828delinsGTTC ENSP00000260947.4:p.Val609=
ENST00000421162.1:c.472_475delinsGTTC ENSP00000392245.1:p.Val158=
ENST00000455743.5:c.*1445_*1448delinsGTTC ENSP00000412186.1:n.*1445_*1448delinsGTTC
ENST00000613192.1:c.74-14637_74-14634delinsGTTC ENSP00000483275.1:n.74-14637_74-14634delinsGTTC
ENST00000613374.4:c.415_418delinsGTTC ENSP00000484464.1:p.Val139=
ENST00000613706.4:c.472_475delinsGTTC ENSP00000484976.1:p.Val158=
ENST00000617164.4:c.1768_1771delinsGTTC ENSP00000480470.1:p.Val590=
ENST00000619009.4:c.365-14637_365-14634delinsGTTC ENSP00000482293.1:n.365-14637_365-14634delinsGTTC
ENST00000620057.4:c.*491_*494delinsGTTC ENSP00000481988.1:n.*491_*494delinsGTTC
NM_000465.3:c.1825_1828delinsGTTC NP_000456.2:p.Val609=
NM_001282543.1:c.1768_1771delinsGTTC NP_001269472.1:p.Val590=
NM_001282545.1:c.472_475delinsGTTC NP_001269474.1:p.Val158=
NM_001282548.1:c.415_418delinsGTTC NP_001269477.1:p.Val139=
NM_001282549.1:c.365-14637_365-14634delinsGTTC NP_001269478.1:n.365-14637_365-14634delinsGTTC
NR_104212.1:n.1818_1821delinsGTTC
NR_104215.1:n.1761_1764delinsGTTC
NR_104216.1:n.1017_1020delinsGTTC
XM_011511567.1:c.1771_1774delinsGTTC XP_011509869.1:p.Val591=
XM_011511568.1:c.1825_1828delinsGTTC XP_011509870.1:p.Val609=
XM_017004613.1:c.1924_1927delinsGTTC XP_016860102.1:p.Val642=
XM_017004614.1:c.1924_1927delinsGTTC XP_016860103.1:p.Val642=
XR_002959322.1:n.2015_2018delinsGTTC
NM_000465.4:c.1825_1828delinsGTTC MANE Select NP_000456.2:p.Val609=
NM_001282543.2:c.1768_1771delinsGTTC NP_001269472.1:p.Val590=
NM_001282545.2:c.472_475delinsGTTC NP_001269474.1:p.Val158=
NM_001282548.2:c.415_418delinsGTTC NP_001269477.1:p.Val139=
NM_001282549.2:c.365-14637_365-14634delinsGTTC NP_001269478.1:n.365-14637_365-14634delinsGTTC
NR_104212.2:n.1790_1793delinsGTTC
NR_104215.2:n.1733_1736delinsGTTC
NR_104216.2:n.989_992delinsGTTC