Canonical Allele Identifier: CA16617435
Community Standard Title: NM_000465.4(BARD1):c.1518_1519delinsCT (p.Val507Leu)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214767531_214767532delinsAG , CM000664.2:g.214767531_214767532delinsAG GRCh38
NC_000002.11:g.215632255_215632256delinsAG , CM000664.1:g.215632255_215632256delinsAG GRCh37
NC_000002.10:g.215340500_215340501delinsAG NCBI36
NG_012047.2:g.47173_47174delinsCT
NG_012047.3:g.47180_47181delinsCT

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.1518_1519delinsCT MANE Select NP_000456.2:p.Val507Leu
ENST00000260947.9:c.1518_1519delinsCT MANE Select ENSP00000260947.4:p.Val507Leu
NM_000465.3:c.1518_1519delinsCT NP_000456.2:p.Val507Leu
NM_001282543.1:c.1461_1462delinsCT NP_001269472.1:p.Val488Leu
NM_001282543.2:c.1461_1462delinsCT NP_001269472.1:p.Val488Leu
NM_001282545.1:c.216-14977_216-14976delinsCT NP_001269474.1:n.216-14977_216-14976delinsCT
NM_001282545.2:c.216-14977_216-14976delinsCT NP_001269474.1:n.216-14977_216-14976delinsCT
NM_001282548.1:c.159-14977_159-14976delinsCT NP_001269477.1:n.159-14977_159-14976delinsCT
NM_001282548.2:c.159-14977_159-14976delinsCT NP_001269477.1:n.159-14977_159-14976delinsCT
NM_001282549.1:c.364+24765_364+24766delinsCT NP_001269478.1:n.364+24765_364+24766delinsCT
NM_001282549.2:c.364+24765_364+24766delinsCT NP_001269478.1:n.364+24765_364+24766delinsCT
NR_104212.1:n.1511_1512delinsCT
NR_104212.2:n.1483_1484delinsCT
NR_104215.1:n.1454_1455delinsCT
NR_104215.2:n.1426_1427delinsCT
NR_104216.1:n.710_711delinsCT
NR_104216.2:n.682_683delinsCT
ENST00000260947.8:c.1518_1519delinsCT ENSP00000260947.4:p.Val507Leu
ENST00000421162.1:c.216-14977_216-14976delinsCT ENSP00000392245.1:n.216-14977_216-14976delinsCT
ENST00000421162.2:c.216-14977_216-14976delinsCT ENSP00000392245.2:n.216-14977_216-14976delinsCT
ENST00000455743.5:c.*1138_*1139delinsCT ENSP00000412186.1:n.*1138_*1139delinsCT
ENST00000613192.1:c.74-37024_74-37023delinsCT ENSP00000483275.1:n.74-37024_74-37023delinsCT
ENST00000613192.2:c.159-37024_159-37023delinsCT ENSP00000483275.2:n.159-37024_159-37023delinsCT
ENST00000613374.4:c.159-14977_159-14976delinsCT ENSP00000484464.1:n.159-14977_159-14976delinsCT
ENST00000613374.5:c.159-14977_159-14976delinsCT ENSP00000484464.1:n.159-14977_159-14976delinsCT
ENST00000613706.4:c.216-14977_216-14976delinsCT ENSP00000484976.1:n.216-14977_216-14976delinsCT
ENST00000613706.5:c.1110_1111delinsCT ENSP00000484976.2:p.Val371Leu
ENST00000617164.4:c.1461_1462delinsCT ENSP00000480470.1:p.Val488Leu
ENST00000617164.5:c.1461_1462delinsCT ENSP00000480470.1:p.Val488Leu
ENST00000619009.4:c.364+24765_364+24766delinsCT ENSP00000482293.1:n.364+24765_364+24766delinsCT
ENST00000619009.5:c.364+24765_364+24766delinsCT ENSP00000482293.1:n.364+24765_364+24766delinsCT
ENST00000620057.4:c.*184_*185delinsCT ENSP00000481988.1:n.*184_*185delinsCT
ENST00000650978.1:c.2893_2894delinsCT
XM_011511567.1:c.1464_1465delinsCT XP_011509869.1:p.Val489Leu
XM_011511568.1:c.1518_1519delinsCT XP_011509870.1:p.Val507Leu
XM_017004613.1:c.1617_1618delinsCT XP_016860102.1:p.Val540Leu
XM_017004614.1:c.1617_1618delinsCT XP_016860103.1:p.Val540Leu
XR_002959322.1:n.1708_1709delinsCT