Canonical Allele Identifier: CA3273051314
Community Standard Title: NM_000465.4(BARD1):c.100_102delinsAGT (p.Trp34Ser)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214809468_214809470delinsACT , CM000664.2:g.214809468_214809470delinsACT GRCh38
NC_000002.11:g.215674192_215674194delinsACT , CM000664.1:g.215674192_215674194delinsACT GRCh37
NC_000002.10:g.215382437_215382439delinsACT NCBI36
NG_012047.2:g.5235_5237delinsAGT
NG_012047.3:g.5242_5244delinsAGT

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.100_102delinsAGT MANE Select NP_000456.2:p.Trp34Ser
ENST00000260947.9:c.100_102delinsAGT MANE Select ENSP00000260947.4:p.Trp34Ser
NM_000465.3:c.100_102delinsAGT NP_000456.2:p.Trp34Ser
NM_001282543.1:c.100_102delinsAGT NP_001269472.1:p.Trp34Ser
NM_001282543.2:c.100_102delinsAGT NP_001269472.1:p.Trp34Ser
NM_001282545.1:c.100_102delinsAGT NP_001269474.1:p.Trp34Ser
NM_001282545.2:c.100_102delinsAGT NP_001269474.1:p.Trp34Ser
NM_001282548.1:c.100_102delinsAGT NP_001269477.1:p.Trp34Ser
NM_001282548.2:c.100_102delinsAGT NP_001269477.1:p.Trp34Ser
NM_001282549.1:c.100_102delinsAGT NP_001269478.1:p.Trp34Ser
NM_001282549.2:c.100_102delinsAGT NP_001269478.1:p.Trp34Ser
NR_104212.1:n.242_244delinsAGT
NR_104212.2:n.214_216delinsAGT
NR_104215.1:n.242_244delinsAGT
NR_104215.2:n.214_216delinsAGT
NR_104216.1:n.242_244delinsAGT
NR_104216.2:n.214_216delinsAGT
ENST00000260947.8:c.100_102delinsAGT ENSP00000260947.4:p.Trp34Ser
ENST00000421162.1:c.100_102delinsAGT ENSP00000392245.1:p.Trp34Ser
ENST00000421162.2:c.100_102delinsAGT ENSP00000392245.2:p.Trp34Ser
ENST00000455743.5:c.100_102delinsAGT ENSP00000412186.1:p.Trp34Ser
ENST00000471787.1:n.201_203delinsAGT
ENST00000479904.1:n.191_193delinsAGT
ENST00000613192.1:c.15_17delinsAGT ENSP00000483275.1:p.Gly6Val
ENST00000613192.2:c.100_102delinsAGT ENSP00000483275.2:p.Trp34Ser
ENST00000613374.4:c.100_102delinsAGT ENSP00000484464.1:p.Trp34Ser
ENST00000613374.5:c.100_102delinsAGT ENSP00000484464.1:p.Trp34Ser
ENST00000613706.4:c.100_102delinsAGT ENSP00000484976.1:p.Trp34Ser
ENST00000613706.5:c.100_102delinsAGT ENSP00000484976.2:p.Trp34Ser
ENST00000617164.4:c.100_102delinsAGT ENSP00000480470.1:p.Trp34Ser
ENST00000617164.5:c.100_102delinsAGT ENSP00000480470.1:p.Trp34Ser
ENST00000619009.4:c.100_102delinsAGT ENSP00000482293.1:p.Trp34Ser
ENST00000619009.5:c.100_102delinsAGT ENSP00000482293.1:p.Trp34Ser
ENST00000620057.4:c.100_102delinsAGT ENSP00000481988.1:p.Trp34Ser
XM_011511568.1:c.100_102delinsAGT XP_011509870.1:p.Trp34Ser
XM_017004613.1:c.100_102delinsAGT XP_016860102.1:p.Trp34Ser
XM_017004614.1:c.100_102delinsAGT XP_016860103.1:p.Trp34Ser
XR_002959322.1:n.191_193delinsAGT