Canonical Allele Identifier: CA3273053751
Community Standard Title: NM_000465.4(BARD1):c.70_72delinsGCG (p.Pro24Ala)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214809498_214809500delinsCGC , CM000664.2:g.214809498_214809500delinsCGC GRCh38
NC_000002.11:g.215674222_215674224delinsCGC , CM000664.1:g.215674222_215674224delinsCGC GRCh37
NC_000002.10:g.215382467_215382469delinsCGC NCBI36
NG_012047.2:g.5205_5207delinsGCG
NG_012047.3:g.5212_5214delinsGCG

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.70_72delinsGCG MANE Select NP_000456.2:p.Pro24Ala
ENST00000260947.9:c.70_72delinsGCG MANE Select ENSP00000260947.4:p.Pro24Ala
NM_000465.3:c.70_72delinsGCG NP_000456.2:p.Pro24Ala
NM_001282543.1:c.70_72delinsGCG NP_001269472.1:p.Pro24Ala
NM_001282543.2:c.70_72delinsGCG NP_001269472.1:p.Pro24Ala
NM_001282545.1:c.70_72delinsGCG NP_001269474.1:p.Pro24Ala
NM_001282545.2:c.70_72delinsGCG NP_001269474.1:p.Pro24Ala
NM_001282548.1:c.70_72delinsGCG NP_001269477.1:p.Pro24Ala
NM_001282548.2:c.70_72delinsGCG NP_001269477.1:p.Pro24Ala
NM_001282549.1:c.70_72delinsGCG NP_001269478.1:p.Pro24Ala
NM_001282549.2:c.70_72delinsGCG NP_001269478.1:p.Pro24Ala
NR_104212.1:n.212_214delinsGCG
NR_104212.2:n.184_186delinsGCG
NR_104215.1:n.212_214delinsGCG
NR_104215.2:n.184_186delinsGCG
NR_104216.1:n.212_214delinsGCG
NR_104216.2:n.184_186delinsGCG
ENST00000260947.8:c.70_72delinsGCG ENSP00000260947.4:p.Pro24Ala
ENST00000421162.1:c.70_72delinsGCG ENSP00000392245.1:p.Pro24Ala
ENST00000421162.2:c.70_72delinsGCG ENSP00000392245.2:p.Pro24Ala
ENST00000455743.5:c.70_72delinsGCG ENSP00000412186.1:p.Pro24Ala
ENST00000471787.1:n.171_173delinsGCG
ENST00000479904.1:n.161_163delinsGCG
ENST00000613192.1:c.-16_-14delinsGCG ENSP00000483275.1:n.-16_-14delinsGCG
ENST00000613192.2:c.70_72delinsGCG ENSP00000483275.2:p.Pro24Ala
ENST00000613374.4:c.70_72delinsGCG ENSP00000484464.1:p.Pro24Ala
ENST00000613374.5:c.70_72delinsGCG ENSP00000484464.1:p.Pro24Ala
ENST00000613706.4:c.70_72delinsGCG ENSP00000484976.1:p.Pro24Ala
ENST00000613706.5:c.70_72delinsGCG ENSP00000484976.2:p.Pro24Ala
ENST00000617164.4:c.70_72delinsGCG ENSP00000480470.1:p.Pro24Ala
ENST00000617164.5:c.70_72delinsGCG ENSP00000480470.1:p.Pro24Ala
ENST00000619009.4:c.70_72delinsGCG ENSP00000482293.1:p.Pro24Ala
ENST00000619009.5:c.70_72delinsGCG ENSP00000482293.1:p.Pro24Ala
ENST00000620057.4:c.70_72delinsGCG ENSP00000481988.1:p.Pro24Ala
XM_011511568.1:c.70_72delinsGCG XP_011509870.1:p.Pro24Ala
XM_017004613.1:c.70_72delinsGCG XP_016860102.1:p.Pro24Ala
XM_017004614.1:c.70_72delinsGCG XP_016860103.1:p.Pro24Ala
XR_002959322.1:n.161_163delinsGCG