Canonical Allele Identifier: CA16612984
Gene: BMPR1A HGNC NCBI

Linked Data

dbSNP Id: rs1060503409
MyVariant Identifiers: chr10:g.88679009_88679012del (hg19) chr10:g.86919252_86919255del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86919252_86919255del , CM000672.2:g.86919252_86919255del GRCh38
NC_000010.10:g.88679009_88679012del , CM000672.1:g.88679009_88679012del GRCh37
NC_000010.9:g.88668989_88668992del NCBI36
NG_009362.1:g.167614_167617del , LRG_298:g.167614_167617del

Transcript Alleles

HGVS Amino-acid change
ENST00000480152.3:c.949_952del ENSP00000483569.2:p.Leu317MetfsTer4
ENST00000635816.2:c.949_952del ENSP00000489707.1:p.Leu317MetfsTer4
ENST00000636056.2:c.949_952del ENSP00000490273.1:p.Leu317MetfsTer4
ENST00000372037.8:c.949_952del MANE Select ENSP00000361107.2:p.Leu317MetfsTer4
ENST00000635816.1:c.949_952del ENSP00000489707.1:p.Leu317MetfsTer4
ENST00000636056.1:c.949_952del ENSP00000490273.1:p.Leu317MetfsTer4
ENST00000638429.1:c.949_952del ENSP00000492290.1:p.Leu317MetfsTer4
ENST00000372037.7:c.949_952del ENSP00000361107.1:p.Leu317MetfsTer4
NM_004329.2:c.949_952del , LRG_298t1:c.949_952del NP_004320.2:p.Leu317MetfsTer4
XM_011540103.1:c.949_952del XP_011538405.1:p.Leu317MetfsTer4
XM_011540104.1:c.949_952del XP_011538406.1:p.Leu317MetfsTer4
XM_011540103.2:c.949_952del XP_011538405.1:p.Leu317MetfsTer4
XM_011540104.2:c.949_952del XP_011538406.1:p.Leu317MetfsTer4
NM_004329.3:c.949_952del MANE Select NP_004320.2:p.Leu317MetfsTer4
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