Canonical Allele Identifier: CA669476234

Gene: BMPR1A

Linked Data

• dbSNP Id: rs1276021182
• gnomAD v3: 10-86899940-G-GT
• gnomAD v4: 10-86899940-G-GT
• MyVariant Identifiers: chr10:g.88659697_88659698insT (hg19) ; chr10:g.86899940_86899941insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86899944dup , CM000672.2:g.86899944dup	GRCh38
NC_000010.10:g.88659701dup , CM000672.1:g.88659701dup	GRCh37
NC_000010.9:g.88649681dup	NCBI36
NG_009362.1:g.148306dup , LRG_298:g.148306dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.430+54dup	ENSP00000483569.2:n.430+54dup
ENST00000635816.2:c.430+54dup	ENSP00000489707.1:n.430+54dup
ENST00000636056.2:c.430+54dup	ENSP00000490273.1:n.430+54dup
ENST00000372037.8:c.430+54dup MANE Select	ENSP00000361107.2:n.430+54dup
ENST00000635816.1:c.430+54dup	ENSP00000489707.1:n.430+54dup
ENST00000636056.1:c.430+54dup	ENSP00000490273.1:n.430+54dup
ENST00000638429.1:c.430+54dup	ENSP00000492290.1:n.430+54dup
ENST00000372037.7:c.430+54dup	ENSP00000361107.1:n.430+54dup
NM_004329.2:c.430+54dup , LRG_298t1:c.430+54dup	NP_004320.2:n.430+54dup
XM_011540103.1:c.430+54dup	XP_011538405.1:n.430+54dup
XM_011540104.1:c.430+54dup	XP_011538406.1:n.430+54dup
XM_011540103.2:c.430+54dup	XP_011538405.1:n.430+54dup
XM_011540104.2:c.430+54dup	XP_011538406.1:n.430+54dup
NM_004329.3:c.430+54dup MANE Select	NP_004320.2:n.430+54dup