Canonical Allele Identifier: CA2573145685

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 1471161
• ClinVar RCV Id: RCV001966645

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86899803_86899805delinsTTT , CM000672.2:g.86899803_86899805delinsTTT	GRCh38
NC_000010.10:g.88659560_88659562delinsTTT , CM000672.1:g.88659560_88659562delinsTTT	GRCh37
NC_000010.9:g.88649540_88649542delinsTTT	NCBI36
NG_009362.1:g.148165_148167delinsTTT , LRG_298:g.148165_148167delinsTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.343_345delinsTTT	ENSP00000483569.2:p.Lys115Phe
ENST00000635816.2:c.343_345delinsTTT	ENSP00000489707.1:p.Lys115Phe
ENST00000636056.2:c.343_345delinsTTT	ENSP00000490273.1:p.Lys115Phe
ENST00000372037.8:c.343_345delinsTTT MANE Select	ENSP00000361107.2:p.Lys115Phe
ENST00000635816.1:c.343_345delinsTTT	ENSP00000489707.1:p.Lys115Phe
ENST00000636056.1:c.343_345delinsTTT	ENSP00000490273.1:p.Lys115Phe
ENST00000638429.1:c.343_345delinsTTT	ENSP00000492290.1:p.Lys115Phe
ENST00000372037.7:c.343_345delinsTTT	ENSP00000361107.1:p.Lys115Phe
NM_004329.2:c.343_345delinsTTT , LRG_298t1:c.343_345delinsTTT	NP_004320.2:p.Lys115Phe
XM_011540103.1:c.343_345delinsTTT	XP_011538405.1:p.Lys115Phe
XM_011540104.1:c.343_345delinsTTT	XP_011538406.1:p.Lys115Phe
XM_011540103.2:c.343_345delinsTTT	XP_011538405.1:p.Lys115Phe
XM_011540104.2:c.343_345delinsTTT	XP_011538406.1:p.Lys115Phe
NM_004329.3:c.343_345delinsTTT MANE Select	NP_004320.2:p.Lys115Phe