Canonical Allele Identifier: CA669480806

Gene: BMPR1A

Linked Data

• dbSNP Id: rs1461169022
• MyVariant Identifiers: chr10:g.88516885_88516886insCGGG (hg19) ; chr10:g.86757128_86757129insCGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86757131_86757132insGCGG , CM000672.2:g.86757131_86757132insGCGG	GRCh38
NC_000010.10:g.88516888_88516889insGCGG , CM000672.1:g.88516888_88516889insGCGG	GRCh37
NC_000010.9:g.88506868_88506869insGCGG	NCBI36
NG_009362.1:g.5493_5494insGCGG , LRG_298:g.5493_5494insGCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.-373+212_-373+213insGCGG	ENSP00000483569.2:n.-373+212_-373+213insGCGG
ENST00000635816.2:c.-268+212_-268+213insGCGG	ENSP00000489707.1:n.-268+212_-268+213insGCGG
ENST00000636056.2:c.-268+212_-268+213insGCGG	ENSP00000490273.1:n.-268+212_-268+213insGCGG
ENST00000372037.8:c.-268+212_-268+213insGCGG MANE Select	ENSP00000361107.2:n.-268+212_-268+213insGCGG
ENST00000638429.1:c.-268+212_-268+213insGCGG	ENSP00000492290.1:n.-268+212_-268+213insGCGG
ENST00000372037.7:c.-268+212_-268+213insGCGG	ENSP00000361107.1:n.-268+212_-268+213insGCGG
NM_004329.2:c.-268+212_-268+213insGCGG , LRG_298t1:c.-268+212_-268+213insGCGG	NP_004320.2:n.-268+212_-268+213insGCGG
XM_011540103.1:c.-268+1168_-268+1169insGCGG	XP_011538405.1:n.-268+1168_-268+1169insGCGG
XM_011540104.1:c.-373+212_-373+213insGCGG	XP_011538406.1:n.-373+212_-373+213insGCGG
XM_011540103.2:c.-268+1168_-268+1169insGCGG	XP_011538405.1:n.-268+1168_-268+1169insGCGG
XM_011540104.2:c.-373+212_-373+213insGCGG	XP_011538406.1:n.-373+212_-373+213insGCGG
NM_004329.3:c.-268+212_-268+213insGCGG MANE Select	NP_004320.2:n.-268+212_-268+213insGCGG