Canonical Allele Identifier: CA5585488

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 1578600
• ClinVar RCV Id: RCV002090676
• dbSNP Id: rs769483063
• ExAC: 10:88659531 TATC / T
• MyVariant Identifiers: chr10:g.88659532_88659534del (hg19) ; chr10:g.86899775_86899777del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86899777_86899779del , CM000672.2:g.86899777_86899779del	GRCh38
NC_000010.10:g.88659534_88659536del , CM000672.1:g.88659534_88659536del	GRCh37
NC_000010.9:g.88649514_88649516del	NCBI36
NG_009362.1:g.148139_148141del , LRG_298:g.148139_148141del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.334-17_334-15del	ENSP00000483569.2:n.334-17_334-15del
ENST00000635816.2:c.334-17_334-15del	ENSP00000489707.1:n.334-17_334-15del
ENST00000636056.2:c.334-17_334-15del	ENSP00000490273.1:n.334-17_334-15del
ENST00000372037.8:c.334-17_334-15del MANE Select	ENSP00000361107.2:n.334-17_334-15del
ENST00000635816.1:c.334-17_334-15del	ENSP00000489707.1:n.334-17_334-15del
ENST00000636056.1:c.334-17_334-15del	ENSP00000490273.1:n.334-17_334-15del
ENST00000638429.1:c.334-17_334-15del	ENSP00000492290.1:n.334-17_334-15del
ENST00000372037.7:c.334-17_334-15del	ENSP00000361107.1:n.334-17_334-15del
NM_004329.2:c.334-17_334-15del , LRG_298t1:c.334-17_334-15del	NP_004320.2:n.334-17_334-15del
XM_011540103.1:c.334-17_334-15del	XP_011538405.1:n.334-17_334-15del
XM_011540104.1:c.334-17_334-15del	XP_011538406.1:n.334-17_334-15del
XM_011540103.2:c.334-17_334-15del	XP_011538405.1:n.334-17_334-15del
XM_011540104.2:c.334-17_334-15del	XP_011538406.1:n.334-17_334-15del
NM_004329.3:c.334-17_334-15del MANE Select	NP_004320.2:n.334-17_334-15del