Canonical Allele Identifier: CA236338266

Gene: ACVR1B

Linked Data

• dbSNP Id: rs1004164198
• gnomAD v2: 12-52356296-C-CT
• gnomAD v3: 12-51962512-C-CT
• gnomAD v4: 12-51962512-C-CT
• MyVariant Identifiers: chr12:g.52356296_52356297insT (hg19) ; chr12:g.51962512_51962513insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51962519dup , CM000674.2:g.51962519dup	GRCh38
NC_000012.11:g.52356303dup , CM000674.1:g.52356303dup	GRCh37
NC_000012.10:g.50642570dup	NCBI36
NG_022926.1:g.15853dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000257963.9:c.91+10685dup MANE Select	ENSP00000257963.4:n.91+10685dup
ENST00000257963.8:c.91+10685dup	ENSP00000257963.4:n.91+10685dup
ENST00000415850.6:c.91+10685dup	ENSP00000397550.2:n.91+10685dup
ENST00000426655.6:c.91+10685dup	ENSP00000390477.2:n.91+10685dup
ENST00000536420.5:c.-66+2332dup	ENSP00000443218.1:n.-66+2332dup
ENST00000541224.5:c.91+10685dup	ENSP00000442656.1:n.91+10685dup
ENST00000542485.1:c.-66+9020dup	ENSP00000442885.1:n.-66+9020dup
NM_004302.4:c.91+10685dup	NP_004293.1:n.91+10685dup
NM_020327.3:c.-66+9020dup	NP_064732.3:n.-66+9020dup
NM_020328.3:c.91+10685dup	NP_064733.3:n.91+10685dup
XM_011538966.1:c.91+10685dup	XP_011537268.1:n.91+10685dup
XM_011538967.1:c.91+10685dup	XP_011537269.1:n.91+10685dup
XM_011538966.3:c.91+10685dup	XP_011537268.1:n.91+10685dup
XM_011538967.3:c.91+10685dup	XP_011537269.1:n.91+10685dup
XM_017020201.2:c.91+10685dup	XP_016875690.1:n.91+10685dup
NM_004302.5:c.91+10685dup MANE Select	NP_004293.1:n.91+10685dup
NM_020328.4:c.91+10685dup	NP_064733.3:n.91+10685dup
NM_020327.4:c.-66+9020dup	NP_064732.3:n.-66+9020dup