Canonical Allele Identifier: CA689769707

Gene: ACVR1B

Linked Data

• dbSNP Id: rs1466269000
• gnomAD v3: 12-51955285-AC-A
• gnomAD v4: 12-51955285-AC-A
• MyVariant Identifiers: chr12:g.52349070del (hg19) ; chr12:g.51955286del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51955287del , CM000674.2:g.51955287del	GRCh38
NC_000012.11:g.52349071del , CM000674.1:g.52349071del	GRCh37
NC_000012.10:g.50635338del	NCBI36
NG_022926.1:g.8621del

Transcript Alleles

HGVS	Amino-acid change
ENST00000257963.9:c.91+3453del MANE Select	ENSP00000257963.4:n.91+3453del
ENST00000257963.8:c.91+3453del	ENSP00000257963.4:n.91+3453del
ENST00000415850.6:c.91+3453del	ENSP00000397550.2:n.91+3453del
ENST00000426655.6:c.91+3453del	ENSP00000390477.2:n.91+3453del
ENST00000536420.5:c.-198+3453del	ENSP00000443218.1:n.-198+3453del
ENST00000541224.5:c.91+3453del	ENSP00000442656.1:n.91+3453del
ENST00000542485.1:c.-66+1788del	ENSP00000442885.1:n.-66+1788del
NM_004302.4:c.91+3453del	NP_004293.1:n.91+3453del
NM_020327.3:c.-66+1788del	NP_064732.3:n.-66+1788del
NM_020328.3:c.91+3453del	NP_064733.3:n.91+3453del
XM_011538966.1:c.91+3453del	XP_011537268.1:n.91+3453del
XM_011538967.1:c.91+3453del	XP_011537269.1:n.91+3453del
XM_011538966.3:c.91+3453del	XP_011537268.1:n.91+3453del
XM_011538967.3:c.91+3453del	XP_011537269.1:n.91+3453del
XM_017020201.2:c.91+3453del	XP_016875690.1:n.91+3453del
NM_004302.5:c.91+3453del MANE Select	NP_004293.1:n.91+3453del
NM_020328.4:c.91+3453del	NP_064733.3:n.91+3453del
NM_020327.4:c.-66+1788del	NP_064732.3:n.-66+1788del