Canonical Allele Identifier: CA10586696

Gene: B9D1

Linked Data

• ClinVar Variation Id: 254680
• ClinVar RCV Id: RCV000241542
• dbSNP Id: rs886038206
• gnomAD v2: 17-19246724-TCAC-T
• gnomAD v4: 17-19343411-TCAC-T
• MyVariant Identifiers: chr17:g.19246725_19246727del (hg19) ; chr17:g.19343412_19343414del (hg38)
• PubMed: PMID:24886560

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19343415_19343417del , CM000679.2:g.19343415_19343417del	GRCh38
NC_000017.10:g.19246728_19246730del , CM000679.1:g.19246728_19246730del	GRCh37
NC_000017.9:g.19187321_19187323del	NCBI36
NG_031885.1:g.39769_39771del
NG_031885.2:g.39780_39782del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261499.11:c.520_522del MANE Select	ENSP00000261499.4:p.Val174del
ENST00000261499.10:c.520_522del	ENSP00000261499.4:p.Val174del
ENST00000477478.7:c.*296_*298del	ENSP00000460939.2:n.*296_*298del
ENST00000582857.2:c.112+376_112+378del	ENSP00000463165.2:n.112+376_112+378del
ENST00000642870.2:c.160_162del	ENSP00000496409.2:p.Val54del
ENST00000646248.1:c.347_349del	ENSP00000493599.1:n.347_349del
ENST00000647056.1:c.*86+376_*86+378del	ENSP00000496502.1:n.*86+376_*86+378del
ENST00000647252.1:c.*296_*298del	ENSP00000495045.1:n.*296_*298del
ENST00000663089.1:c.*296_*298del	ENSP00000499469.1:n.*296_*298del
ENST00000671102.1:c.535+376_535+378del	ENSP00000499690.1:n.535+376_535+378del
ENST00000674596.1:c.297+376_297+378del	ENSP00000501877.1:n.297+376_297+378del
ENST00000675510.1:c.404+3855_404+3857del	ENSP00000501817.1:n.404+3855_404+3857del
ENST00000261499.8:c.520_522del	ENSP00000261499.4:p.Val174del
ENST00000395615.5:c.*68_*70del	ENSP00000378977.1:n.*68_*70del
ENST00000461069.6:c.472+376_472+378del	ENSP00000433359.2:n.472+376_472+378del
ENST00000477478.6:c.*133_*135del	ENSP00000460939.1:n.*133_*135del
ENST00000575403.5:c.399+376_399+378del	ENSP00000459857.1:n.399+376_399+378del
NM_001243473.1:c.*133_*135del	NP_001230402.1:n.*133_*135del
NM_001243475.1:c.399+376_399+378del	NP_001230404.1:n.399+376_399+378del
NM_015681.3:c.520_522del	NP_056496.1:p.Val174del
XM_005256605.2:c.472+376_472+378del	XP_005256662.1:n.472+376_472+378del
XM_005256607.2:c.*68_*70del	XP_005256664.1:n.*68_*70del
XM_005256608.2:c.404+3855_404+3857del	XP_005256665.1:n.404+3855_404+3857del
XM_011523793.1:c.*45_*47del	XP_011522095.1:n.*45_*47del
XM_011523794.1:c.472+376_472+378del	XP_011522096.1:n.472+376_472+378del
NM_001243473.2:c.*133_*135del	NP_001230402.1:n.*133_*135del
NM_001243475.2:c.399+376_399+378del	NP_001230404.1:n.399+376_399+378del
NM_001321214.1:c.*45_*47del	NP_001308143.1:n.*45_*47del
NM_001321215.1:c.*296_*298del	NP_001308144.1:n.*296_*298del
NM_001321217.1:c.472+376_472+378del	NP_001308146.1:n.472+376_472+378del
NM_001321218.1:c.472+376_472+378del	NP_001308147.1:n.472+376_472+378del
NM_001321219.1:c.404+3855_404+3857del	NP_001308148.1:n.404+3855_404+3857del
NM_015681.4:c.520_522del	NP_056496.1:p.Val174del
NM_001321214.2:c.*45_*47del	NP_001308143.1:n.*45_*47del
NM_001321215.2:c.*296_*298del	NP_001308144.1:n.*296_*298del
NM_001321217.2:c.472+376_472+378del	NP_001308146.1:n.472+376_472+378del
NM_001321218.2:c.472+376_472+378del	NP_001308147.1:n.472+376_472+378del
NM_001321219.2:c.404+3855_404+3857del	NP_001308148.1:n.404+3855_404+3857del
NM_001368769.2:c.112+376_112+378del	NP_001355698.1:n.112+376_112+378del
NM_015681.5:c.520_522del	NP_056496.1:p.Val174del
NM_001321215.3:c.*296_*298del	NP_001308144.1:n.*296_*298del
NM_015681.6:c.520_522del MANE Select	NP_056496.1:p.Val174del