Canonical Allele Identifier: CA16613195
Gene: BMPR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 411600
ClinVar RCV Id: RCV002230184
dbSNP Id: rs1064792985
MyVariant Identifiers: chr10:g.88649964_88649979del (hg19) chr10:g.86890207_86890222del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86890207_86890222del , CM000672.2:g.86890207_86890222del GRCh38
NC_000010.10:g.88649964_88649979del , CM000672.1:g.88649964_88649979del GRCh37
NC_000010.9:g.88639944_88639959del NCBI36
NG_009362.1:g.138569_138584del , LRG_298:g.138569_138584del

Transcript Alleles

HGVS Amino-acid change
ENST00000480152.3:c.213_228del ENSP00000483569.2:p.Ile72Ter
ENST00000635816.2:c.213_228del ENSP00000489707.1:p.Ile72Ter
ENST00000636056.2:c.213_228del ENSP00000490273.1:p.Ile72Ter
ENST00000372037.8:c.213_228del MANE Select ENSP00000361107.2:p.Ile72Ter
ENST00000635816.1:c.213_228del ENSP00000489707.1:p.Ile72Ter
ENST00000636056.1:c.213_228del ENSP00000490273.1:p.Ile72Ter
ENST00000638429.1:c.213_228del ENSP00000492290.1:p.Ile72Ter
ENST00000372037.7:c.213_228del ENSP00000361107.1:p.Ile72Ter
NM_004329.2:c.213_228del , LRG_298t1:c.213_228del NP_004320.2:p.Ile72Ter
XM_011540103.1:c.213_228del XP_011538405.1:p.Ile72Ter
XM_011540104.1:c.213_228del XP_011538406.1:p.Ile72Ter
XM_011540103.2:c.213_228del XP_011538405.1:p.Ile72Ter
XM_011540104.2:c.213_228del XP_011538406.1:p.Ile72Ter
NM_004329.3:c.213_228del MANE Select NP_004320.2:p.Ile72Ter
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