Canonical Allele Identifier: CA764559325

Gene: BARD1

Linked Data

• dbSNP Id: rs1167581179
• MyVariant Identifiers: chr2:g.215594822_215594826del (hg19) ; chr2:g.214730098_214730102del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730100_214730104del , CM000664.2:g.214730100_214730104del	GRCh38
NC_000002.11:g.215594824_215594828del , CM000664.1:g.215594824_215594828del	GRCh37
NC_000002.10:g.215303069_215303073del	NCBI36
NG_012047.2:g.84603_84607del
NG_012047.3:g.84610_84614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2001+309_2001+313del MANE Select	ENSP00000260947.4:n.2001+309_2001+313del
ENST00000421162.2:c.648+309_648+313del	ENSP00000392245.2:n.648+309_648+313del
ENST00000613192.2:c.*64+309_*64+313del	ENSP00000483275.2:n.*64+309_*64+313del
ENST00000613374.5:c.591+309_591+313del	ENSP00000484464.1:n.591+309_591+313del
ENST00000613706.5:c.1593+309_1593+313del	ENSP00000484976.2:n.1593+309_1593+313del
ENST00000617164.5:c.1944+309_1944+313del	ENSP00000480470.1:n.1944+309_1944+313del
ENST00000619009.5:c.462+309_462+313del	ENSP00000482293.1:n.462+309_462+313del
ENST00000650978.1:c.3376+309_3376+313del
ENST00000260947.8:c.2001+309_2001+313del	ENSP00000260947.4:n.2001+309_2001+313del
ENST00000432456.5:c.144+133_144+137del
ENST00000455743.5:c.*1621+309_*1621+313del	ENSP00000412186.1:n.*1621+309_*1621+313del
ENST00000471590.5:n.336+309_336+313del
ENST00000613192.1:c.171+309_171+313del	ENSP00000483275.1:n.171+309_171+313del
ENST00000613374.4:c.591+309_591+313del	ENSP00000484464.1:n.591+309_591+313del
ENST00000613706.4:c.648+309_648+313del	ENSP00000484976.1:n.648+309_648+313del
ENST00000617164.4:c.1944+309_1944+313del	ENSP00000480470.1:n.1944+309_1944+313del
ENST00000619009.4:c.462+309_462+313del	ENSP00000482293.1:n.462+309_462+313del
ENST00000620057.4:c.*667+309_*667+313del	ENSP00000481988.1:n.*667+309_*667+313del
NM_000465.3:c.2001+309_2001+313del	NP_000456.2:n.2001+309_2001+313del
NM_001282543.1:c.1944+309_1944+313del	NP_001269472.1:n.1944+309_1944+313del
NM_001282545.1:c.648+309_648+313del	NP_001269474.1:n.648+309_648+313del
NM_001282548.1:c.591+309_591+313del	NP_001269477.1:n.591+309_591+313del
NM_001282549.1:c.462+309_462+313del	NP_001269478.1:n.462+309_462+313del
NR_104212.1:n.1994+309_1994+313del
NR_104215.1:n.1937+309_1937+313del
NR_104216.1:n.1193+309_1193+313del
XM_011511567.1:c.1947+309_1947+313del	XP_011509869.1:n.1947+309_1947+313del
XM_017004613.1:c.2100+309_2100+313del	XP_016860102.1:n.2100+309_2100+313del
XR_002959322.1:n.2367+133_2367+137del
NM_000465.4:c.2001+309_2001+313del MANE Select	NP_000456.2:n.2001+309_2001+313del
NM_001282543.2:c.1944+309_1944+313del	NP_001269472.1:n.1944+309_1944+313del
NM_001282545.2:c.648+309_648+313del	NP_001269474.1:n.648+309_648+313del
NM_001282548.2:c.591+309_591+313del	NP_001269477.1:n.591+309_591+313del
NM_001282549.2:c.462+309_462+313del	NP_001269478.1:n.462+309_462+313del
NR_104212.2:n.1966+309_1966+313del
NR_104215.2:n.1909+309_1909+313del
NR_104216.2:n.1165+309_1165+313del