Canonical Allele Identifier: CA913188304

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 630915
• ClinVar RCV Id: RCV000776934
• dbSNP Id: rs1564717965

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86900134_86900136del , CM000672.2:g.86900134_86900136del	GRCh38
NC_000010.10:g.88659891_88659893del , CM000672.1:g.88659891_88659893del	GRCh37
NC_000010.9:g.88649871_88649873del	NCBI36
NG_009362.1:g.148496_148498del , LRG_298:g.148496_148498del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.530+8_530+10del	ENSP00000483569.2:n.530+8_530+10del
ENST00000635816.2:c.530+8_530+10del	ENSP00000489707.1:n.530+8_530+10del
ENST00000636056.2:c.530+8_530+10del	ENSP00000490273.1:n.530+8_530+10del
ENST00000372037.8:c.530+8_530+10del MANE Select	ENSP00000361107.2:n.530+8_530+10del
ENST00000635816.1:c.530+8_530+10del	ENSP00000489707.1:n.530+8_530+10del
ENST00000636056.1:c.530+8_530+10del	ENSP00000490273.1:n.530+8_530+10del
ENST00000638429.1:c.530+8_530+10del	ENSP00000492290.1:n.530+8_530+10del
ENST00000372037.7:c.530+8_530+10del	ENSP00000361107.1:n.530+8_530+10del
NM_004329.2:c.530+8_530+10del , LRG_298t1:c.530+8_530+10del	NP_004320.2:n.530+8_530+10del
XM_011540103.1:c.530+8_530+10del	XP_011538405.1:n.530+8_530+10del
XM_011540104.1:c.530+8_530+10del	XP_011538406.1:n.530+8_530+10del
XM_011540103.2:c.530+8_530+10del	XP_011538405.1:n.530+8_530+10del
XM_011540104.2:c.530+8_530+10del	XP_011538406.1:n.530+8_530+10del
NM_004329.3:c.530+8_530+10del MANE Select	NP_004320.2:n.530+8_530+10del