Canonical Allele Identifier: CA2610000291

Gene: BMPR1A

Linked Data

• gnomAD v4: 10-86756742-AGGCTCGGCGCGTCCGTCCGCGCGCGGCGAAGATCGCACGGCCCGATCGAGGGGCGACCGGGTCGGGGCCGCTGCACGCCAAGGGCGAAGGCCGATTCGGGCCCCACTTCGCCCCGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86756749_86756865del , CM000672.2:g.86756749_86756865del	GRCh38
NC_000010.10:g.88516506_88516622del , CM000672.1:g.88516506_88516622del	GRCh37
NC_000010.9:g.88506486_88506602del	NCBI36
NG_009362.1:g.5111_5227del , LRG_298:g.5111_5227del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.-543_-427del	ENSP00000483569.2:n.-543_-427del
ENST00000635816.2:c.-438_-322del	ENSP00000489707.1:n.-438_-322del
ENST00000636056.2:c.-438_-322del	ENSP00000490273.1:n.-438_-322del
ENST00000372037.8:c.-438_-322del MANE Select	ENSP00000361107.2:n.-438_-322del
ENST00000638429.1:c.-438_-322del	ENSP00000492290.1:n.-438_-322del
ENST00000372037.7:c.-438_-322del	ENSP00000361107.1:n.-438_-322del
NM_004329.2:c.-438_-322del , LRG_298t1:c.-438_-322del	NP_004320.2:n.-438_-322del
XM_011540103.1:c.-268+786_-268+902del	XP_011538405.1:n.-268+786_-268+902del
XM_011540104.1:c.-543_-427del	XP_011538406.1:n.-543_-427del
XM_011540103.2:c.-268+786_-268+902del	XP_011538405.1:n.-268+786_-268+902del
XM_011540104.2:c.-543_-427del	XP_011538406.1:n.-543_-427del
NM_004329.3:c.-438_-322del MANE Select	NP_004320.2:n.-438_-322del