Canonical Allele Identifier: CA1925653630

Gene: BMPR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86757199_86757203delinsTCCGG , CM000672.2:g.86757199_86757203delinsTCCGG	GRCh38
NC_000010.10:g.88516956_88516960delinsTCCGG , CM000672.1:g.88516956_88516960delinsTCCGG	GRCh37
NC_000010.9:g.88506936_88506940delinsTCCGG	NCBI36
NG_009362.1:g.5561_5565delinsTCCGG , LRG_298:g.5561_5565delinsTCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.-373+280_-373+284delinsTCCGG	ENSP00000483569.2:n.-373+280_-373+284delinsTCCGG
ENST00000635816.2:c.-268+280_-268+284delinsTCCGG	ENSP00000489707.1:n.-268+280_-268+284delinsTCCGG
ENST00000636056.2:c.-268+280_-268+284delinsTCCGG	ENSP00000490273.1:n.-268+280_-268+284delinsTCCGG
ENST00000372037.8:c.-268+280_-268+284delinsTCCGG MANE Select	ENSP00000361107.2:n.-268+280_-268+284delinsTCCGG
ENST00000638429.1:c.-268+280_-268+284delinsTCCGG	ENSP00000492290.1:n.-268+280_-268+284delinsTCCGG
ENST00000372037.7:c.-268+280_-268+284delinsTCCGG	ENSP00000361107.1:n.-268+280_-268+284delinsTCCGG
NM_004329.2:c.-268+280_-268+284delinsTCCGG , LRG_298t1:c.-268+280_-268+284delinsTCCGG	NP_004320.2:n.-268+280_-268+284delinsTCCGG
XM_011540103.1:c.-268+1236_-268+1240delinsTCCGG	XP_011538405.1:n.-268+1236_-268+1240delinsTCCGG
XM_011540104.1:c.-373+280_-373+284delinsTCCGG	XP_011538406.1:n.-373+280_-373+284delinsTCCGG
XM_011540103.2:c.-268+1236_-268+1240delinsTCCGG	XP_011538405.1:n.-268+1236_-268+1240delinsTCCGG
XM_011540104.2:c.-373+280_-373+284delinsTCCGG	XP_011538406.1:n.-373+280_-373+284delinsTCCGG
NM_004329.3:c.-268+280_-268+284delinsTCCGG MANE Select	NP_004320.2:n.-268+280_-268+284delinsTCCGG