Canonical Allele Identifier: CA1925715026

Gene: BMPR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86899944_86899950delinsTACAGTA , CM000672.2:g.86899944_86899950delinsTACAGTA	GRCh38
NC_000010.10:g.88659701_88659707delinsTACAGTA , CM000672.1:g.88659701_88659707delinsTACAGTA	GRCh37
NC_000010.9:g.88649681_88649687delinsTACAGTA	NCBI36
NG_009362.1:g.148306_148312delinsTACAGTA , LRG_298:g.148306_148312delinsTACAGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.430+54_430+60delinsTACAGTA	ENSP00000483569.2:n.430+54_430+60delinsTACAGTA
ENST00000635816.2:c.430+54_430+60delinsTACAGTA	ENSP00000489707.1:n.430+54_430+60delinsTACAGTA
ENST00000636056.2:c.430+54_430+60delinsTACAGTA	ENSP00000490273.1:n.430+54_430+60delinsTACAGTA
ENST00000372037.8:c.430+54_430+60delinsTACAGTA MANE Select	ENSP00000361107.2:n.430+54_430+60delinsTACAGTA
ENST00000635816.1:c.430+54_430+60delinsTACAGTA	ENSP00000489707.1:n.430+54_430+60delinsTACAGTA
ENST00000636056.1:c.430+54_430+60delinsTACAGTA	ENSP00000490273.1:n.430+54_430+60delinsTACAGTA
ENST00000638429.1:c.430+54_430+60delinsTACAGTA	ENSP00000492290.1:n.430+54_430+60delinsTACAGTA
ENST00000372037.7:c.430+54_430+60delinsTACAGTA	ENSP00000361107.1:n.430+54_430+60delinsTACAGTA
NM_004329.2:c.430+54_430+60delinsTACAGTA , LRG_298t1:c.430+54_430+60delinsTACAGTA	NP_004320.2:n.430+54_430+60delinsTACAGTA
XM_011540103.1:c.430+54_430+60delinsTACAGTA	XP_011538405.1:n.430+54_430+60delinsTACAGTA
XM_011540104.1:c.430+54_430+60delinsTACAGTA	XP_011538406.1:n.430+54_430+60delinsTACAGTA
XM_011540103.2:c.430+54_430+60delinsTACAGTA	XP_011538405.1:n.430+54_430+60delinsTACAGTA
XM_011540104.2:c.430+54_430+60delinsTACAGTA	XP_011538406.1:n.430+54_430+60delinsTACAGTA
NM_004329.3:c.430+54_430+60delinsTACAGTA MANE Select	NP_004320.2:n.430+54_430+60delinsTACAGTA