Canonical Allele Identifier: CA2662971984

Gene: BARD1

Linked Data

• gnomAD v4: 2-214792172-A-ACAGATTTTAAAATCTGGAATACGTATTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792188_214792189insGAATACGTATTTCAGATTTTAAAATCTG , CM000664.2:g.214792188_214792189insGAATACGTATTTCAGATTTTAAAATCTG	GRCh38
NC_000002.11:g.215656912_215656913insGAATACGTATTTCAGATTTTAAAATCTG , CM000664.1:g.215656912_215656913insGAATACGTATTTCAGATTTTAAAATCTG	GRCh37
NC_000002.10:g.215365157_215365158insGAATACGTATTTCAGATTTTAAAATCTG	NCBI36
NG_012047.2:g.22532_22533insAAATACGTATTCCAGATTTTAAAATCTG
NG_012047.3:g.22539_22540insAAATACGTATTCCAGATTTTAAAATCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.364+124_364+125insAAATACGTATTCCAGATTTTAAAATCTG MANE Select	ENSP00000260947.4:n.364+124_364+125insAAA...
ENST00000421162.2:c.215+4888_215+4889insAAATACGTATTCCAGATTTTAAAATCTG	ENSP00000392245.2:n.215+4888_215+4889insA...
ENST00000613192.2:c.158+17239_158+17240insAAATACGTATTCCAGATTTTAAAATCTG	ENSP00000483275.2:n.158+17239_158+17240in...
ENST00000613374.5:c.158+17239_158+17240insAAATACGTATTCCAGATTTTAAAATCTG	ENSP00000484464.1:n.158+17239_158+17240in...
ENST00000613706.5:c.364+124_364+125insAAATACGTATTCCAGATTTTAAAATCTG	ENSP00000484976.2:n.364+124_364+125insAAA...
ENST00000617164.5:c.307+124_307+125insAAATACGTATTCCAGATTTTAAAATCTG	ENSP00000480470.1:n.307+124_307+125insAAA...
ENST00000619009.5:c.364+124_364+125insAAATACGTATTCCAGATTTTAAAATCTG	ENSP00000482293.1:n.364+124_364+125insAAA...
ENST00000650978.1:c.206+124_206+125insAAATACGTATTCCAGATTTTAAAATCTG
ENST00000260947.8:c.364+124_364+125insAAATACGTATTCCAGATTTTAAAATCTG	ENSP00000260947.4:n.364+124_364+125insAAA...
ENST00000421162.1:c.215+4888_215+4889insAAATACGTATTCCAGATTTTAAAATCTG	ENSP00000392245.1:n.215+4888_215+4889insA...
ENST00000455743.5:c.215+4888_215+4889insAAATACGTATTCCAGATTTTAAAATCTG	ENSP00000412186.1:n.215+4888_215+4889insA...
ENST00000471787.1:n.260-10664_260-10663insAAATACGTATTCCAGATTTTAAAATCTG
ENST00000613192.1:c.73+17239_73+17240insAAATACGTATTCCAGATTTTAAAATCTG	ENSP00000483275.1:n.73+17239_73+17240insA...
ENST00000613374.4:c.158+17239_158+17240insAAATACGTATTCCAGATTTTAAAATCTG	ENSP00000484464.1:n.158+17239_158+17240in...
ENST00000613706.4:c.215+4888_215+4889insAAATACGTATTCCAGATTTTAAAATCTG	ENSP00000484976.1:n.215+4888_215+4889insA...
ENST00000617164.4:c.307+124_307+125insAAATACGTATTCCAGATTTTAAAATCTG	ENSP00000480470.1:n.307+124_307+125insAAA...
ENST00000619009.4:c.364+124_364+125insAAATACGTATTCCAGATTTTAAAATCTG	ENSP00000482293.1:n.364+124_364+125insAAA...
ENST00000620057.4:c.364+124_364+125insAAATACGTATTCCAGATTTTAAAATCTG	ENSP00000481988.1:n.364+124_364+125insAAA...
NM_000465.3:c.364+124_364+125insAAATACGTATTCCAGATTTTAAAATCTG	NP_000456.2:n.364+124_364+125insAAATACGTA...
NM_001282543.1:c.307+124_307+125insAAATACGTATTCCAGATTTTAAAATCTG	NP_001269472.1:n.307+124_307+125insAAATAC...
NM_001282545.1:c.215+4888_215+4889insAAATACGTATTCCAGATTTTAAAATCTG	NP_001269474.1:n.215+4888_215+4889insAAAT...
NM_001282548.1:c.158+17239_158+17240insAAATACGTATTCCAGATTTTAAAATCTG	NP_001269477.1:n.158+17239_158+17240insAA...
NM_001282549.1:c.364+124_364+125insAAATACGTATTCCAGATTTTAAAATCTG	NP_001269478.1:n.364+124_364+125insAAATAC...
NR_104212.1:n.357+4888_357+4889insAAATACGTATTCCAGATTTTAAAATCTG
NR_104215.1:n.301-10664_301-10663insAAATACGTATTCCAGATTTTAAAATCTG
NR_104216.1:n.506+124_506+125insAAATACGTATTCCAGATTTTAAAATCTG
XM_011511567.1:c.310+124_310+125insAAATACGTATTCCAGATTTTAAAATCTG	XP_011509869.1:n.310+124_310+125insAAATAC...
XM_011511568.1:c.364+124_364+125insAAATACGTATTCCAGATTTTAAAATCTG	XP_011509870.1:n.364+124_364+125insAAATAC...
XM_017004613.1:c.463+124_463+125insAAATACGTATTCCAGATTTTAAAATCTG	XP_016860102.1:n.463+124_463+125insAAATAC...
XM_017004614.1:c.463+124_463+125insAAATACGTATTCCAGATTTTAAAATCTG	XP_016860103.1:n.463+124_463+125insAAATAC...
XR_002959322.1:n.554+124_554+125insAAATACGTATTCCAGATTTTAAAATCTG
NM_000465.4:c.364+124_364+125insAAATACGTATTCCAGATTTTAAAATCTG MANE Select	NP_000456.2:n.364+124_364+125insAAATACGTA...
NM_001282543.2:c.307+124_307+125insAAATACGTATTCCAGATTTTAAAATCTG	NP_001269472.1:n.307+124_307+125insAAATAC...
NM_001282545.2:c.215+4888_215+4889insAAATACGTATTCCAGATTTTAAAATCTG	NP_001269474.1:n.215+4888_215+4889insAAAT...
NM_001282548.2:c.158+17239_158+17240insAAATACGTATTCCAGATTTTAAAATCTG	NP_001269477.1:n.158+17239_158+17240insAA...
NM_001282549.2:c.364+124_364+125insAAATACGTATTCCAGATTTTAAAATCTG	NP_001269478.1:n.364+124_364+125insAAATAC...
NR_104212.2:n.329+4888_329+4889insAAATACGTATTCCAGATTTTAAAATCTG
NR_104215.2:n.273-10664_273-10663insAAATACGTATTCCAGATTTTAAAATCTG
NR_104216.2:n.478+124_478+125insAAATACGTATTCCAGATTTTAAAATCTG