Canonical Allele Identifier: CA645528601

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2834040
• ClinVar RCV Id: RCV003608108
• gnomAD v4: 2-214745168-CA-C
• COSMIC: COSM4439855 ; COSM4439856

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745175del , CM000664.2:g.214745175del	GRCh38
NC_000002.11:g.215609899del , CM000664.1:g.215609899del	GRCh37
NC_000002.10:g.215318144del	NCBI36
NG_012047.2:g.69536del
NG_012047.3:g.69543del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1811-10del MANE Select	ENSP00000260947.4:n.1811-10del
ENST00000421162.2:c.458-10del	ENSP00000392245.2:n.458-10del
ENST00000613192.2:c.159-14661del	ENSP00000483275.2:n.159-14661del
ENST00000613374.5:c.401-10del	ENSP00000484464.1:n.401-10del
ENST00000613706.5:c.1403-10del	ENSP00000484976.2:n.1403-10del
ENST00000617164.5:c.1754-10del	ENSP00000480470.1:n.1754-10del
ENST00000619009.5:c.365-14661del	ENSP00000482293.1:n.365-14661del
ENST00000650978.1:c.3186-10del
ENST00000260947.8:c.1811-10del	ENSP00000260947.4:n.1811-10del
ENST00000421162.1:c.458-10del	ENSP00000392245.1:n.458-10del
ENST00000455743.5:c.*1431-10del	ENSP00000412186.1:n.*1431-10del
ENST00000613192.1:c.74-14661del	ENSP00000483275.1:n.74-14661del
ENST00000613374.4:c.401-10del	ENSP00000484464.1:n.401-10del
ENST00000613706.4:c.458-10del	ENSP00000484976.1:n.458-10del
ENST00000617164.4:c.1754-10del	ENSP00000480470.1:n.1754-10del
ENST00000619009.4:c.365-14661del	ENSP00000482293.1:n.365-14661del
ENST00000620057.4:c.*477-10del	ENSP00000481988.1:n.*477-10del
NM_000465.3:c.1811-10del	NP_000456.2:n.1811-10del
NM_001282543.1:c.1754-10del	NP_001269472.1:n.1754-10del
NM_001282545.1:c.458-10del	NP_001269474.1:n.458-10del
NM_001282548.1:c.401-10del	NP_001269477.1:n.401-10del
NM_001282549.1:c.365-14661del	NP_001269478.1:n.365-14661del
NR_104212.1:n.1804-10del
NR_104215.1:n.1747-10del
NR_104216.1:n.1003-10del
XM_011511567.1:c.1757-10del	XP_011509869.1:n.1757-10del
XM_011511568.1:c.1811-10del	XP_011509870.1:n.1811-10del
XM_017004613.1:c.1910-10del	XP_016860102.1:n.1910-10del
XM_017004614.1:c.1910-10del	XP_016860103.1:n.1910-10del
XR_002959322.1:n.2001-10del
NM_000465.4:c.1811-10del MANE Select	NP_000456.2:n.1811-10del
NM_001282543.2:c.1754-10del	NP_001269472.1:n.1754-10del
NM_001282545.2:c.458-10del	NP_001269474.1:n.458-10del
NM_001282548.2:c.401-10del	NP_001269477.1:n.401-10del
NM_001282549.2:c.365-14661del	NP_001269478.1:n.365-14661del
NR_104212.2:n.1776-10del
NR_104215.2:n.1719-10del
NR_104216.2:n.975-10del