Canonical Allele Identifier: CA2582342686

Gene: BMPR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86919254_86919255dup , CM000672.2:g.86919254_86919255dup	GRCh38
NC_000010.10:g.88679011_88679012dup , CM000672.1:g.88679011_88679012dup	GRCh37
NC_000010.9:g.88668991_88668992dup	NCBI36
NG_009362.1:g.167616_167617dup , LRG_298:g.167616_167617dup

Transcript Alleles

HGVS	Amino-acid Change
NM_004329.3:c.951_952dup MANE Select	NP_004320.2:p.Tyr318SerfsTer5
ENST00000372037.8:c.951_952dup MANE Select	ENSP00000361107.2:p.Tyr318SerfsTer5
NM_004329.2:c.951_952dup , LRG_298t1:c.951_952dup	NP_004320.2:p.Tyr318SerfsTer5
ENST00000372037.7:c.951_952dup	ENSP00000361107.1:p.Tyr318SerfsTer5
ENST00000480152.3:c.951_952dup	ENSP00000483569.2:p.Tyr318SerfsTer5
ENST00000635816.1:c.951_952dup	ENSP00000489707.1:p.Tyr318SerfsTer5
ENST00000635816.2:c.951_952dup	ENSP00000489707.1:p.Tyr318SerfsTer5
ENST00000636056.1:c.951_952dup	ENSP00000490273.1:p.Tyr318SerfsTer5
ENST00000636056.2:c.951_952dup	ENSP00000490273.1:p.Tyr318SerfsTer5
ENST00000638429.1:c.951_952dup	ENSP00000492290.1:p.Tyr318SerfsTer5
XM_011540103.1:c.951_952dup	XP_011538405.1:p.Tyr318SerfsTer5
XM_011540103.2:c.951_952dup	XP_011538405.1:p.Tyr318SerfsTer5
XM_011540104.1:c.951_952dup	XP_011538406.1:p.Tyr318SerfsTer5
XM_011540104.2:c.951_952dup	XP_011538406.1:p.Tyr318SerfsTer5