Canonical Allele Identifier: CA764556762

Gene: BARD1

Linked Data

• dbSNP Id: rs1186335074
• MyVariant Identifiers: chr2:g.215592685_215592686del (hg19) ; chr2:g.214727961_214727962del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214727962_214727963del , CM000664.2:g.214727962_214727963del	GRCh38
NC_000002.11:g.215592686_215592687del , CM000664.1:g.215592686_215592687del	GRCh37
NC_000002.10:g.215300931_215300932del	NCBI36
NG_012047.2:g.86743_86744del
NG_012047.3:g.86750_86751del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.*714_*715del MANE Select	ENSP00000260947.4:n.*714_*715del
ENST00000260947.8:c.*714_*715del	ENSP00000260947.4:n.*714_*715del
ENST00000613374.4:c.*714_*715del	ENSP00000484464.1:n.*714_*715del
ENST00000613706.4:c.*714_*715del	ENSP00000484976.1:n.*714_*715del
ENST00000617164.4:c.*714_*715del	ENSP00000480470.1:n.*714_*715del
ENST00000619009.4:c.*714_*715del	ENSP00000482293.1:n.*714_*715del
NM_000465.3:c.*714_*715del	NP_000456.2:n.*714_*715del
NM_001282543.1:c.*714_*715del	NP_001269472.1:n.*714_*715del
NM_001282545.1:c.*714_*715del	NP_001269474.1:n.*714_*715del
NM_001282548.1:c.*714_*715del	NP_001269477.1:n.*714_*715del
NM_001282549.1:c.*714_*715del	NP_001269478.1:n.*714_*715del
NR_104212.1:n.3041_3042del
NR_104215.1:n.2984_2985del
NR_104216.1:n.2240_2241del
XM_011511567.1:c.*714_*715del	XP_011509869.1:n.*714_*715del
XM_017004613.1:c.*714_*715del	XP_016860102.1:n.*714_*715del
NM_000465.4:c.*714_*715del MANE Select	NP_000456.2:n.*714_*715del
NM_001282543.2:c.*714_*715del	NP_001269472.1:n.*714_*715del
NM_001282545.2:c.*714_*715del	NP_001269474.1:n.*714_*715del
NM_001282548.2:c.*714_*715del	NP_001269477.1:n.*714_*715del
NM_001282549.2:c.*714_*715del	NP_001269478.1:n.*714_*715del
NR_104212.2:n.3013_3014del
NR_104215.2:n.2956_2957del
NR_104216.2:n.2212_2213del