Canonical Allele Identifier: CA645369424

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 429100
• ClinVar RCV Id: RCV002524003
• dbSNP Id: rs1131691179

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86900037_86900054delinsGA , CM000672.2:g.86900037_86900054delinsGA	GRCh38
NC_000010.10:g.88659794_88659811delinsGA , CM000672.1:g.88659794_88659811delinsGA	GRCh37
NC_000010.9:g.88649774_88649791delinsGA	NCBI36
NG_009362.1:g.148399_148416delinsGA , LRG_298:g.148399_148416delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000480152.3:c.441_458delinsGA	ENSP00000483569.2:p.Phe147LeufsTer13
ENST00000635816.2:c.441_458delinsGA	ENSP00000489707.1:p.Phe147LeufsTer13
ENST00000636056.2:c.441_458delinsGA	ENSP00000490273.1:p.Phe147LeufsTer13
ENST00000372037.8:c.441_458delinsGA MANE Select	ENSP00000361107.2:p.Phe147LeufsTer13
ENST00000635816.1:c.441_458delinsGA	ENSP00000489707.1:p.Phe147LeufsTer13
ENST00000636056.1:c.441_458delinsGA	ENSP00000490273.1:p.Phe147LeufsTer13
ENST00000638429.1:c.441_458delinsGA	ENSP00000492290.1:p.Phe147LeufsTer13
ENST00000372037.7:c.441_458delinsGA	ENSP00000361107.1:p.Phe147LeufsTer13
NM_004329.2:c.441_458delinsGA , LRG_298t1:c.441_458delinsGA	NP_004320.2:p.Phe147LeufsTer13
XM_011540103.1:c.441_458delinsGA	XP_011538405.1:p.Phe147LeufsTer13
XM_011540104.1:c.441_458delinsGA	XP_011538406.1:p.Phe147LeufsTer13
XM_011540103.2:c.441_458delinsGA	XP_011538405.1:p.Phe147LeufsTer13
XM_011540104.2:c.441_458delinsGA	XP_011538406.1:p.Phe147LeufsTer13
NM_004329.3:c.441_458delinsGA MANE Select	NP_004320.2:p.Phe147LeufsTer13