Canonical Allele Identifier: CA2963890400
Community Standard Title: NM_015681.6(B9D1):c.458dup (p.Glu154Ter)
Gene: B9D1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.19343806dup , CM000679.2:g.19343806dup GRCh38
NC_000017.10:g.19247119dup , CM000679.1:g.19247119dup GRCh37
NC_000017.9:g.19187712dup NCBI36
NG_031885.1:g.39379dup
NG_031885.2:g.39390dup

Transcript Alleles

HGVS Amino-acid Change
NM_015681.6:c.458dup MANE Select NP_056496.1:p.Glu154Ter
ENST00000261499.11:c.458dup MANE Select ENSP00000261499.4:p.Glu154Ter
NM_001243473.1:c.517dup NP_001230402.1:p.Val173GlyfsTer?
NM_001243473.2:c.517dup NP_001230402.1:p.Val173GlyfsTer?
NM_001243475.1:c.385dup NP_001230404.1:p.Val129GlyfsTer15
NM_001243475.2:c.385dup NP_001230404.1:p.Val129GlyfsTer15
NM_001321214.1:c.458dup NP_001308143.1:p.Glu154Ter
NM_001321214.2:c.458dup NP_001308143.1:p.Glu154Ter
NM_001321215.1:c.458dup NP_001308144.1:p.Glu154Ter
NM_001321215.2:c.458dup NP_001308144.1:p.Glu154Ter
NM_001321215.3:c.458dup NP_001308144.1:p.Glu154Ter
NM_001321217.1:c.458dup NP_001308146.1:p.Glu154Ter
NM_001321217.2:c.458dup NP_001308146.1:p.Glu154Ter
NM_001321218.1:c.458dup NP_001308147.1:p.Glu154Ter
NM_001321218.2:c.458dup NP_001308147.1:p.Glu154Ter
NM_001321219.1:c.404+3465dup NP_001308148.1:n.404+3465dup
NM_001321219.2:c.404+3465dup NP_001308148.1:n.404+3465dup
NM_001330149.1:c.458dup NP_001317078.1:p.Glu154Ter
NM_001330149.2:c.458dup NP_001317078.1:p.Glu154Ter
NM_001368769.2:c.98dup NP_001355698.1:p.Glu34Ter
NM_015681.3:c.458dup NP_056496.1:p.Glu154Ter
NM_015681.4:c.458dup NP_056496.1:p.Glu154Ter
NM_015681.5:c.458dup NP_056496.1:p.Glu154Ter
ENST00000261499.10:c.458dup ENSP00000261499.4:p.Glu154Ter
ENST00000261499.8:c.458dup ENSP00000261499.4:p.Glu154Ter
ENST00000395615.5:c.458dup ENSP00000378977.1:p.Glu154Ter
ENST00000395616.7:c.458dup ENSP00000378978.3:p.Glu154Ter
ENST00000461069.6:c.458dup ENSP00000433359.2:p.Glu154Ter
ENST00000477478.6:c.385dup ENSP00000460939.1:p.Val129GlyfsTer?
ENST00000477478.7:c.98dup ENSP00000460939.2:p.Glu34Ter
ENST00000575403.5:c.385dup ENSP00000459857.1:p.Val129GlyfsTer15
ENST00000575478.5:c.385dup ENSP00000458525.1:p.Val129GlyfsTer?
ENST00000575478.7:c.98dup ENSP00000458525.3:p.Glu34Ter
ENST00000582857.2:c.98dup ENSP00000463165.2:p.Glu34Ter
ENST00000642870.2:c.98dup ENSP00000496409.2:p.Glu34Ter
ENST00000646248.1:c.251dup ENSP00000493599.1:p.Glu85Ter
ENST00000647056.1:c.*72dup ENSP00000496502.1:n.*72dup
ENST00000647252.1:c.458dup ENSP00000495045.1:p.Glu154Ter
ENST00000663089.1:c.521dup ENSP00000499469.1:p.Glu175Ter
ENST00000671102.1:c.521dup ENSP00000499690.1:p.Glu175Ter
ENST00000674596.1:c.283dup ENSP00000501877.1:p.Val95GlyfsTer22
ENST00000675510.1:c.404+3465dup ENSP00000501817.1:n.404+3465dup
XM_005256605.2:c.458dup XP_005256662.1:p.Glu154Ter
XM_005256607.2:c.458dup XP_005256664.1:p.Glu154Ter
XM_005256608.2:c.404+3465dup XP_005256665.1:n.404+3465dup
XM_011523793.1:c.458dup XP_011522095.1:p.Glu154Ter
XM_011523794.1:c.458dup XP_011522096.1:p.Glu154Ter