Canonical Allele Identifier: CA64807221

Gene: BARD1

Linked Data

• dbSNP Id: rs561056927
• gnomAD v2: 2-215617497-GTAT-G
• gnomAD v3: 2-214752773-GTAT-G
• gnomAD v4: 2-214752773-GTAT-G
• MyVariant Identifiers: chr2:g.215617498_215617500del (hg19) ; chr2:g.214752774_214752776del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752777_214752779del , CM000664.2:g.214752777_214752779del	GRCh38
NC_000002.11:g.215617501_215617503del , CM000664.1:g.215617501_215617503del	GRCh37
NC_000002.10:g.215325746_215325748del	NCBI36
NG_012047.2:g.61929_61931del
NG_012047.3:g.61936_61938del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1569-221_1569-219del MANE Select	ENSP00000260947.4:n.1569-221_1569-219del
ENST00000421162.2:c.216-221_216-219del	ENSP00000392245.2:n.216-221_216-219del
ENST00000613192.2:c.159-22268_159-22266del	ENSP00000483275.2:n.159-22268_159-22266del
ENST00000613374.5:c.159-221_159-219del	ENSP00000484464.1:n.159-221_159-219del
ENST00000613706.5:c.1161-221_1161-219del	ENSP00000484976.2:n.1161-221_1161-219del
ENST00000617164.5:c.1512-221_1512-219del	ENSP00000480470.1:n.1512-221_1512-219del
ENST00000619009.5:c.365-22268_365-22266del	ENSP00000482293.1:n.365-22268_365-22266del
ENST00000650978.1:c.2944-221_2944-219del
ENST00000260947.8:c.1569-221_1569-219del	ENSP00000260947.4:n.1569-221_1569-219del
ENST00000421162.1:c.216-221_216-219del	ENSP00000392245.1:n.216-221_216-219del
ENST00000455743.5:c.*1189-221_*1189-219del	ENSP00000412186.1:n.*1189-221_*1189-219del
ENST00000613192.1:c.74-22268_74-22266del	ENSP00000483275.1:n.74-22268_74-22266del
ENST00000613374.4:c.159-221_159-219del	ENSP00000484464.1:n.159-221_159-219del
ENST00000613706.4:c.216-221_216-219del	ENSP00000484976.1:n.216-221_216-219del
ENST00000617164.4:c.1512-221_1512-219del	ENSP00000480470.1:n.1512-221_1512-219del
ENST00000619009.4:c.365-22268_365-22266del	ENSP00000482293.1:n.365-22268_365-22266del
ENST00000620057.4:c.*235-221_*235-219del	ENSP00000481988.1:n.*235-221_*235-219del
NM_000465.3:c.1569-221_1569-219del	NP_000456.2:n.1569-221_1569-219del
NM_001282543.1:c.1512-221_1512-219del	NP_001269472.1:n.1512-221_1512-219del
NM_001282545.1:c.216-221_216-219del	NP_001269474.1:n.216-221_216-219del
NM_001282548.1:c.159-221_159-219del	NP_001269477.1:n.159-221_159-219del
NM_001282549.1:c.365-22268_365-22266del	NP_001269478.1:n.365-22268_365-22266del
NR_104212.1:n.1562-221_1562-219del
NR_104215.1:n.1505-221_1505-219del
NR_104216.1:n.761-221_761-219del
XM_011511567.1:c.1515-221_1515-219del	XP_011509869.1:n.1515-221_1515-219del
XM_011511568.1:c.1569-221_1569-219del	XP_011509870.1:n.1569-221_1569-219del
XM_017004613.1:c.1668-221_1668-219del	XP_016860102.1:n.1668-221_1668-219del
XM_017004614.1:c.1668-221_1668-219del	XP_016860103.1:n.1668-221_1668-219del
XR_002959322.1:n.1759-221_1759-219del
NM_000465.4:c.1569-221_1569-219del MANE Select	NP_000456.2:n.1569-221_1569-219del
NM_001282543.2:c.1512-221_1512-219del	NP_001269472.1:n.1512-221_1512-219del
NM_001282545.2:c.216-221_216-219del	NP_001269474.1:n.216-221_216-219del
NM_001282548.2:c.159-221_159-219del	NP_001269477.1:n.159-221_159-219del
NM_001282549.2:c.365-22268_365-22266del	NP_001269478.1:n.365-22268_365-22266del
NR_104212.2:n.1534-221_1534-219del
NR_104215.2:n.1477-221_1477-219del
NR_104216.2:n.733-221_733-219del