Canonical Allele Identifier: CA1042189763

Gene: BARD1

Linked Data

• dbSNP Id: rs1693521461
• gnomAD v3: 2-214752804-ATTC-A
• gnomAD v4: 2-214752804-ATTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752807_214752809del , CM000664.2:g.214752807_214752809del	GRCh38
NC_000002.11:g.215617531_215617533del , CM000664.1:g.215617531_215617533del	GRCh37
NC_000002.10:g.215325776_215325778del	NCBI36
NG_012047.2:g.61898_61900del
NG_012047.3:g.61905_61907del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1569-252_1569-250del MANE Select	ENSP00000260947.4:n.1569-252_1569-250del
ENST00000421162.2:c.216-252_216-250del	ENSP00000392245.2:n.216-252_216-250del
ENST00000613192.2:c.159-22299_159-22297del	ENSP00000483275.2:n.159-22299_159-22297del
ENST00000613374.5:c.159-252_159-250del	ENSP00000484464.1:n.159-252_159-250del
ENST00000613706.5:c.1161-252_1161-250del	ENSP00000484976.2:n.1161-252_1161-250del
ENST00000617164.5:c.1512-252_1512-250del	ENSP00000480470.1:n.1512-252_1512-250del
ENST00000619009.5:c.365-22299_365-22297del	ENSP00000482293.1:n.365-22299_365-22297del
ENST00000650978.1:c.2944-252_2944-250del
ENST00000260947.8:c.1569-252_1569-250del	ENSP00000260947.4:n.1569-252_1569-250del
ENST00000421162.1:c.216-252_216-250del	ENSP00000392245.1:n.216-252_216-250del
ENST00000455743.5:c.*1189-252_*1189-250del	ENSP00000412186.1:n.*1189-252_*1189-250del
ENST00000613192.1:c.74-22299_74-22297del	ENSP00000483275.1:n.74-22299_74-22297del
ENST00000613374.4:c.159-252_159-250del	ENSP00000484464.1:n.159-252_159-250del
ENST00000613706.4:c.216-252_216-250del	ENSP00000484976.1:n.216-252_216-250del
ENST00000617164.4:c.1512-252_1512-250del	ENSP00000480470.1:n.1512-252_1512-250del
ENST00000619009.4:c.365-22299_365-22297del	ENSP00000482293.1:n.365-22299_365-22297del
ENST00000620057.4:c.*235-252_*235-250del	ENSP00000481988.1:n.*235-252_*235-250del
NM_000465.3:c.1569-252_1569-250del	NP_000456.2:n.1569-252_1569-250del
NM_001282543.1:c.1512-252_1512-250del	NP_001269472.1:n.1512-252_1512-250del
NM_001282545.1:c.216-252_216-250del	NP_001269474.1:n.216-252_216-250del
NM_001282548.1:c.159-252_159-250del	NP_001269477.1:n.159-252_159-250del
NM_001282549.1:c.365-22299_365-22297del	NP_001269478.1:n.365-22299_365-22297del
NR_104212.1:n.1562-252_1562-250del
NR_104215.1:n.1505-252_1505-250del
NR_104216.1:n.761-252_761-250del
XM_011511567.1:c.1515-252_1515-250del	XP_011509869.1:n.1515-252_1515-250del
XM_011511568.1:c.1569-252_1569-250del	XP_011509870.1:n.1569-252_1569-250del
XM_017004613.1:c.1668-252_1668-250del	XP_016860102.1:n.1668-252_1668-250del
XM_017004614.1:c.1668-252_1668-250del	XP_016860103.1:n.1668-252_1668-250del
XR_002959322.1:n.1759-252_1759-250del
NM_000465.4:c.1569-252_1569-250del MANE Select	NP_000456.2:n.1569-252_1569-250del
NM_001282543.2:c.1512-252_1512-250del	NP_001269472.1:n.1512-252_1512-250del
NM_001282545.2:c.216-252_216-250del	NP_001269474.1:n.216-252_216-250del
NM_001282548.2:c.159-252_159-250del	NP_001269477.1:n.159-252_159-250del
NM_001282549.2:c.365-22299_365-22297del	NP_001269478.1:n.365-22299_365-22297del
NR_104212.2:n.1534-252_1534-250del
NR_104215.2:n.1477-252_1477-250del
NR_104216.2:n.733-252_733-250del