Canonical Allele Identifier: CA2636566554

Gene: B9D1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19347841_19347849dup , CM000679.2:g.19347841_19347849dup	GRCh38
NC_000017.10:g.19251154_19251162dup , CM000679.1:g.19251154_19251162dup	GRCh37
NC_000017.9:g.19191747_19191755dup	NCBI36
NG_031885.1:g.35334_35342dup
NG_031885.2:g.35345_35353dup

Transcript Alleles

HGVS	Amino-acid Change
NM_015681.6:c.276_284dup MANE Select	NP_056496.1:p.Val94_Phe95insLeuAspVal
ENST00000261499.11:c.276_284dup MANE Select	ENSP00000261499.4:p.Val94_Phe95insLeuAspVal
NM_001243473.1:c.335_343dup	NP_001230402.1:p.Ser115Ter
NM_001243473.2:c.335_343dup	NP_001230402.1:p.Ser115Ter
NM_001243475.1:c.203_211dup	NP_001230404.1:p.Ser71Ter
NM_001243475.2:c.203_211dup	NP_001230404.1:p.Ser71Ter
NM_001321214.1:c.276_284dup	NP_001308143.1:p.Val94_Phe95insLeuAspVal
NM_001321214.2:c.276_284dup	NP_001308143.1:p.Val94_Phe95insLeuAspVal
NM_001321215.1:c.276_284dup	NP_001308144.1:p.Val94_Phe95insLeuAspVal
NM_001321215.2:c.276_284dup	NP_001308144.1:p.Val94_Phe95insLeuAspVal
NM_001321215.3:c.276_284dup	NP_001308144.1:p.Val94_Phe95insLeuAspVal
NM_001321216.1:c.276_284dup	NP_001308145.1:p.Val94_Phe95insLeuAspVal
NM_001321216.2:c.276_284dup	NP_001308145.1:p.Val94_Phe95insLeuAspVal
NM_001321217.1:c.276_284dup	NP_001308146.1:p.Val94_Phe95insLeuAspVal
NM_001321217.2:c.276_284dup	NP_001308146.1:p.Val94_Phe95insLeuAspVal
NM_001321218.1:c.276_284dup	NP_001308147.1:p.Val94_Phe95insLeuAspVal
NM_001321218.2:c.276_284dup	NP_001308147.1:p.Val94_Phe95insLeuAspVal
NM_001321219.1:c.276_284dup	NP_001308148.1:p.Val94_Phe95insLeuAspVal
NM_001321219.2:c.276_284dup	NP_001308148.1:p.Val94_Phe95insLeuAspVal
NM_001330149.1:c.276_284dup	NP_001317078.1:p.Val94_Phe95insLeuAspVal
NM_001330149.2:c.276_284dup	NP_001317078.1:p.Val94_Phe95insLeuAspVal
NM_001368769.2:c.-85_-77dup	NP_001355698.1:n.-85_-77dup
NM_015681.3:c.276_284dup	NP_056496.1:p.Val94_Phe95insLeuAspVal
NM_015681.4:c.276_284dup	NP_056496.1:p.Val94_Phe95insLeuAspVal
NM_015681.5:c.276_284dup	NP_056496.1:p.Val94_Phe95insLeuAspVal
ENST00000261499.10:c.276_284dup	ENSP00000261499.4:p.Val94_Phe95insLeuAspVal
ENST00000261499.8:c.276_284dup	ENSP00000261499.4:p.Val94_Phe95insLeuAspVal
ENST00000268841.10:c.276_284dup	ENSP00000268841.6:p.Val94_Phe95insLeuAspVal
ENST00000395615.5:c.276_284dup	ENSP00000378977.1:p.Val94_Phe95insLeuAspVal
ENST00000395616.7:c.276_284dup	ENSP00000378978.3:p.Val94_Phe95insLeuAspVal
ENST00000440841.1:c.249_257dup	ENSP00000410835.1:p.Val85_Phe86insLeuAspVal
ENST00000461069.6:c.276_284dup	ENSP00000433359.2:p.Val94_Phe95insLeuAspVal
ENST00000477478.6:c.203_211dup	ENSP00000460939.1:p.Ser71Ter
ENST00000477478.7:c.-85_-77dup	ENSP00000460939.2:n.-85_-77dup
ENST00000477683.5:n.420_428dup
ENST00000574508.6:c.203_211dup	ENSP00000462565.1:p.Ser71Ter
ENST00000574508.7:c.-85_-77dup	ENSP00000462565.2:n.-85_-77dup
ENST00000575403.5:c.203_211dup	ENSP00000459857.1:p.Ser71Ter
ENST00000575478.5:c.203_211dup	ENSP00000458525.1:p.Ser71Ter
ENST00000575478.7:c.-85_-77dup	ENSP00000458525.3:n.-85_-77dup
ENST00000582857.1:c.389_397dup	ENSP00000463165.1:n.389_397dup
ENST00000582857.2:c.-85_-77dup	ENSP00000463165.2:n.-85_-77dup
ENST00000642870.2:c.-85_-77dup	ENSP00000496409.2:n.-85_-77dup
ENST00000646248.1:c.69_77dup	ENSP00000493599.1:p.Val25_Phe26insLeuAspVal
ENST00000647056.1:c.268_276dup	ENSP00000496502.1:p.Val92_Arg93insArgCysVal
ENST00000647252.1:c.276_284dup	ENSP00000495045.1:p.Val94_Phe95insLeuAspVal
ENST00000663089.1:c.339_347dup	ENSP00000499469.1:p.Val115_Phe116insLeuAspVal
ENST00000671102.1:c.339_347dup	ENSP00000499690.1:p.Val115_Phe116insLeuAspVal
ENST00000674596.1:c.101_109dup	ENSP00000501877.1:p.Ser37Ter
ENST00000675510.1:c.276_284dup	ENSP00000501817.1:p.Val94_Phe95insLeuAspVal
XM_005256605.2:c.276_284dup	XP_005256662.1:p.Val94_Phe95insLeuAspVal
XM_005256607.2:c.276_284dup	XP_005256664.1:p.Val94_Phe95insLeuAspVal
XM_005256608.2:c.276_284dup	XP_005256665.1:p.Val94_Phe95insLeuAspVal
XM_005256609.1:c.276_284dup	XP_005256666.1:p.Val94_Phe95insLeuAspVal
XM_005256610.1:c.276_284dup	XP_005256667.1:p.Val94_Phe95insLeuAspVal
XM_005256610.2:c.276_284dup	XP_005256667.1:p.Val94_Phe95insLeuAspVal
XM_011523793.1:c.276_284dup	XP_011522095.1:p.Val94_Phe95insLeuAspVal
XM_011523794.1:c.276_284dup	XP_011522096.1:p.Val94_Phe95insLeuAspVal