Canonical Allele Identifier: CA2573054348
Community Standard Title: NM_015681.6(B9D1):c.363del (p.Met121IlefsTer?)
Gene: B9D1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.19347310del , CM000679.2:g.19347310del GRCh38
NC_000017.10:g.19250623del , CM000679.1:g.19250623del GRCh37
NC_000017.9:g.19191216del NCBI36
NG_031885.1:g.35873del
NG_031885.2:g.35884del

Transcript Alleles

HGVS Amino-acid Change
NM_015681.6:c.363del MANE Select NP_056496.1:p.Met121IlefsTer?
ENST00000261499.11:c.363del MANE Select ENSP00000261499.4:p.Met121IlefsTer?
NM_001243473.1:c.422del NP_001230402.1:p.Cys141PhefsTer8
NM_001243473.2:c.422del NP_001230402.1:p.Cys141PhefsTer8
NM_001243475.1:c.290del NP_001230404.1:p.Cys97PhefsTer8
NM_001243475.2:c.290del NP_001230404.1:p.Cys97PhefsTer8
NM_001321214.1:c.363del NP_001308143.1:p.Met121IlefsTer?
NM_001321214.2:c.363del NP_001308143.1:p.Met121IlefsTer?
NM_001321215.1:c.363del NP_001308144.1:p.Met121IlefsTer?
NM_001321215.2:c.363del NP_001308144.1:p.Met121IlefsTer?
NM_001321215.3:c.363del NP_001308144.1:p.Met121IlefsTer?
NM_001321216.1:c.363del NP_001308145.1:p.Met121IlefsTer?
NM_001321216.2:c.363del NP_001308145.1:p.Met121IlefsTer?
NM_001321217.1:c.363del NP_001308146.1:p.Met121IlefsTer?
NM_001321217.2:c.363del NP_001308146.1:p.Met121IlefsTer?
NM_001321218.1:c.363del NP_001308147.1:p.Met121IlefsTer?
NM_001321218.2:c.363del NP_001308147.1:p.Met121IlefsTer?
NM_001321219.1:c.363del NP_001308148.1:p.Met121IlefsTer24
NM_001321219.2:c.363del NP_001308148.1:p.Met121IlefsTer24
NM_001330149.1:c.363del NP_001317078.1:p.Met121IlefsTer?
NM_001330149.2:c.363del NP_001317078.1:p.Met121IlefsTer?
NM_001368769.2:c.3del NP_001355698.1:p.Met1IlefsTer?
NM_015681.3:c.363del NP_056496.1:p.Met121IlefsTer?
NM_015681.4:c.363del NP_056496.1:p.Met121IlefsTer?
NM_015681.5:c.363del NP_056496.1:p.Met121IlefsTer?
ENST00000261499.10:c.363del ENSP00000261499.4:p.Met121IlefsTer?
ENST00000261499.8:c.363del ENSP00000261499.4:p.Met121IlefsTer?
ENST00000268841.10:c.363del ENSP00000268841.6:p.Met121IlefsTer?
ENST00000395615.5:c.363del ENSP00000378977.1:p.Met121IlefsTer?
ENST00000395616.7:c.363del ENSP00000378978.3:p.Met121IlefsTer?
ENST00000440841.1:c.336del ENSP00000410835.1:p.Met112IlefsTer26
ENST00000461069.6:c.363del ENSP00000433359.2:p.Met121IlefsTer?
ENST00000477478.6:c.290del ENSP00000460939.1:p.Cys97PhefsTer8
ENST00000477478.7:c.3del ENSP00000460939.2:p.Met1IlefsTer?
ENST00000477683.5:n.507del
ENST00000574508.6:c.290del ENSP00000462565.1:p.Cys97PhefsTer8
ENST00000574508.7:c.3del ENSP00000462565.2:p.Met1IlefsTer?
ENST00000575403.5:c.290del ENSP00000459857.1:p.Cys97PhefsTer8
ENST00000575478.5:c.290del ENSP00000458525.1:p.Cys97PhefsTer8
ENST00000575478.7:c.3del ENSP00000458525.3:p.Met1IlefsTer?
ENST00000582857.1:c.476del ENSP00000463165.1:n.476del
ENST00000582857.2:c.3del ENSP00000463165.2:p.Met1IlefsTer?
ENST00000642870.2:c.3del ENSP00000496409.2:p.Met1IlefsTer?
ENST00000646248.1:c.156del ENSP00000493599.1:p.Met52IlefsTer?
ENST00000647056.1:c.355del ENSP00000496502.1:p.Val119PhefsTer?
ENST00000647252.1:c.363del ENSP00000495045.1:p.Met121IlefsTer?
ENST00000663089.1:c.426del ENSP00000499469.1:p.Met142IlefsTer?
ENST00000671102.1:c.426del ENSP00000499690.1:p.Met142IlefsTer?
ENST00000674596.1:c.188del ENSP00000501877.1:p.Cys63PhefsTer8
ENST00000675510.1:c.363del ENSP00000501817.1:p.Met121IlefsTer24
XM_005256605.2:c.363del XP_005256662.1:p.Met121IlefsTer?
XM_005256607.2:c.363del XP_005256664.1:p.Met121IlefsTer?
XM_005256608.2:c.363del XP_005256665.1:p.Met121IlefsTer24
XM_005256609.1:c.363del XP_005256666.1:p.Met121IlefsTer?
XM_005256610.1:c.363del XP_005256667.1:p.Met121IlefsTer26
XM_005256610.2:c.363del XP_005256667.1:p.Met121IlefsTer26
XM_011523793.1:c.363del XP_011522095.1:p.Met121IlefsTer?
XM_011523794.1:c.363del XP_011522096.1:p.Met121IlefsTer?