Canonical Allele Identifier: CA594896299

Gene: BMPR1A

Linked Data

• dbSNP Id: rs1231008639
• gnomAD v2: 10-88659530-T-TTATCA
• gnomAD v4: 10-86899773-T-TTATCA
• MyVariant Identifiers: chr10:g.88659530_88659531insTATCA (hg19) ; chr10:g.86899773_86899774insTATCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86899775_86899779dup , CM000672.2:g.86899775_86899779dup	GRCh38
NC_000010.10:g.88659532_88659536dup , CM000672.1:g.88659532_88659536dup	GRCh37
NC_000010.9:g.88649512_88649516dup	NCBI36
NG_009362.1:g.148137_148141dup , LRG_298:g.148137_148141dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000480152.3:c.334-19_334-15dup	ENSP00000483569.2:n.334-19_334-15dup
ENST00000635816.2:c.334-19_334-15dup	ENSP00000489707.1:n.334-19_334-15dup
ENST00000636056.2:c.334-19_334-15dup	ENSP00000490273.1:n.334-19_334-15dup
ENST00000372037.8:c.334-19_334-15dup MANE Select	ENSP00000361107.2:n.334-19_334-15dup
ENST00000635816.1:c.334-19_334-15dup	ENSP00000489707.1:n.334-19_334-15dup
ENST00000636056.1:c.334-19_334-15dup	ENSP00000490273.1:n.334-19_334-15dup
ENST00000638429.1:c.334-19_334-15dup	ENSP00000492290.1:n.334-19_334-15dup
ENST00000372037.7:c.334-19_334-15dup	ENSP00000361107.1:n.334-19_334-15dup
NM_004329.2:c.334-19_334-15dup , LRG_298t1:c.334-19_334-15dup	NP_004320.2:n.334-19_334-15dup
XM_011540103.1:c.334-19_334-15dup	XP_011538405.1:n.334-19_334-15dup
XM_011540104.1:c.334-19_334-15dup	XP_011538406.1:n.334-19_334-15dup
XM_011540103.2:c.334-19_334-15dup	XP_011538405.1:n.334-19_334-15dup
XM_011540104.2:c.334-19_334-15dup	XP_011538406.1:n.334-19_334-15dup
NM_004329.3:c.334-19_334-15dup MANE Select	NP_004320.2:n.334-19_334-15dup