Canonical Allele Identifier: CA669518764

Gene: BMPR1A

Linked Data

• dbSNP Id: rs1315525440
• gnomAD v3: 10-86842614-A-AT
• gnomAD v4: 10-86842614-A-AT
• MyVariant Identifiers: chr10:g.88602371_88602372insT (hg19) ; chr10:g.86842614_86842615insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86842620dup , CM000672.2:g.86842620dup	GRCh38
NC_000010.10:g.88602377dup , CM000672.1:g.88602377dup	GRCh37
NC_000010.9:g.88592357dup	NCBI36
NG_009362.1:g.90982dup , LRG_298:g.90982dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000480152.3:c.-257-786dup	ENSP00000483569.2:n.-257-786dup
ENST00000635816.2:c.-153+3641dup	ENSP00000489707.1:n.-153+3641dup
ENST00000636056.2:c.-153+3641dup	ENSP00000490273.1:n.-153+3641dup
ENST00000372037.8:c.-153+3641dup MANE Select	ENSP00000361107.2:n.-153+3641dup
ENST00000635816.1:c.-153+3641dup	ENSP00000489707.1:n.-153+3641dup
ENST00000636056.1:c.-153+3641dup	ENSP00000490273.1:n.-153+3641dup
ENST00000638429.1:c.-153+3641dup	ENSP00000492290.1:n.-153+3641dup
ENST00000372037.7:c.-153+3641dup	ENSP00000361107.1:n.-153+3641dup
ENST00000480152.2:c.-257-786dup	ENSP00000483569.1:n.-257-786dup
NM_004329.2:c.-153+3641dup , LRG_298t1:c.-153+3641dup	NP_004320.2:n.-153+3641dup
XM_011540103.1:c.-153+3641dup	XP_011538405.1:n.-153+3641dup
XM_011540104.1:c.-257-786dup	XP_011538406.1:n.-257-786dup
XM_011540103.2:c.-153+3641dup	XP_011538405.1:n.-153+3641dup
XM_011540104.2:c.-257-786dup	XP_011538406.1:n.-257-786dup
NM_004329.3:c.-153+3641dup MANE Select	NP_004320.2:n.-153+3641dup