Canonical Allele Identifier: CA689773089

Gene: ACVR1B

Linked Data

• dbSNP Id: rs1429946931
• gnomAD v3: 12-51962792-A-AGAAATGTATATAAAGT
• gnomAD v4: 12-51962792-A-AGAAATGTATATAAAGT
• MyVariant Identifiers: chr12:g.52356576_52356577insGAAATGTATATAAAGT (hg19) ; chr12:g.51962792_51962793insGAAATGTATATAAAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51962795_51962810dup , CM000674.2:g.51962795_51962810dup	GRCh38
NC_000012.11:g.52356579_52356594dup , CM000674.1:g.52356579_52356594dup	GRCh37
NC_000012.10:g.50642846_50642861dup	NCBI36
NG_022926.1:g.16129_16144dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257963.9:c.91+10961_91+10976dup MANE Select	ENSP00000257963.4:n.91+10961_91+10976dup
ENST00000257963.8:c.91+10961_91+10976dup	ENSP00000257963.4:n.91+10961_91+10976dup
ENST00000415850.6:c.91+10961_91+10976dup	ENSP00000397550.2:n.91+10961_91+10976dup
ENST00000426655.6:c.91+10961_91+10976dup	ENSP00000390477.2:n.91+10961_91+10976dup
ENST00000536420.5:c.-66+2608_-66+2623dup	ENSP00000443218.1:n.-66+2608_-66+2623dup
ENST00000541224.5:c.91+10961_91+10976dup	ENSP00000442656.1:n.91+10961_91+10976dup
ENST00000542485.1:c.-66+9296_-66+9311dup	ENSP00000442885.1:n.-66+9296_-66+9311dup
NM_004302.4:c.91+10961_91+10976dup	NP_004293.1:n.91+10961_91+10976dup
NM_020327.3:c.-66+9296_-66+9311dup	NP_064732.3:n.-66+9296_-66+9311dup
NM_020328.3:c.91+10961_91+10976dup	NP_064733.3:n.91+10961_91+10976dup
XM_011538966.1:c.91+10961_91+10976dup	XP_011537268.1:n.91+10961_91+10976dup
XM_011538967.1:c.91+10961_91+10976dup	XP_011537269.1:n.91+10961_91+10976dup
XM_011538966.3:c.91+10961_91+10976dup	XP_011537268.1:n.91+10961_91+10976dup
XM_011538967.3:c.91+10961_91+10976dup	XP_011537269.1:n.91+10961_91+10976dup
XM_017020201.2:c.91+10961_91+10976dup	XP_016875690.1:n.91+10961_91+10976dup
NM_004302.5:c.91+10961_91+10976dup MANE Select	NP_004293.1:n.91+10961_91+10976dup
NM_020328.4:c.91+10961_91+10976dup	NP_064733.3:n.91+10961_91+10976dup
NM_020327.4:c.-66+9296_-66+9311dup	NP_064732.3:n.-66+9296_-66+9311dup