Canonical Allele Identifier: CA2510419511

Gene: ACVR1B

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51954740_51954741insCCC , CM000674.2:g.51954740_51954741insCCC	GRCh38
NC_000012.11:g.52348524_52348525insCCC , CM000674.1:g.52348524_52348525insCCC	GRCh37
NC_000012.10:g.50634791_50634792insCCC	NCBI36
NG_022926.1:g.8074_8075insCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257963.9:c.91+2906_91+2907insCCC MANE Select	ENSP00000257963.4:n.91+2906_91+2907insCCC
ENST00000257963.8:c.91+2906_91+2907insCCC	ENSP00000257963.4:n.91+2906_91+2907insCCC
ENST00000415850.6:c.91+2906_91+2907insCCC	ENSP00000397550.2:n.91+2906_91+2907insCCC
ENST00000426655.6:c.91+2906_91+2907insCCC	ENSP00000390477.2:n.91+2906_91+2907insCCC
ENST00000536420.5:c.-198+2906_-198+2907insCCC	ENSP00000443218.1:n.-198+2906_-198+2907insCCC
ENST00000541224.5:c.91+2906_91+2907insCCC	ENSP00000442656.1:n.91+2906_91+2907insCCC
ENST00000542485.1:c.-66+1241_-66+1242insCCC	ENSP00000442885.1:n.-66+1241_-66+1242insCCC
NM_004302.4:c.91+2906_91+2907insCCC	NP_004293.1:n.91+2906_91+2907insCCC
NM_020327.3:c.-66+1241_-66+1242insCCC	NP_064732.3:n.-66+1241_-66+1242insCCC
NM_020328.3:c.91+2906_91+2907insCCC	NP_064733.3:n.91+2906_91+2907insCCC
XM_011538966.1:c.91+2906_91+2907insCCC	XP_011537268.1:n.91+2906_91+2907insCCC
XM_011538967.1:c.91+2906_91+2907insCCC	XP_011537269.1:n.91+2906_91+2907insCCC
XM_011538966.3:c.91+2906_91+2907insCCC	XP_011537268.1:n.91+2906_91+2907insCCC
XM_011538967.3:c.91+2906_91+2907insCCC	XP_011537269.1:n.91+2906_91+2907insCCC
XM_017020201.2:c.91+2906_91+2907insCCC	XP_016875690.1:n.91+2906_91+2907insCCC
NM_004302.5:c.91+2906_91+2907insCCC MANE Select	NP_004293.1:n.91+2906_91+2907insCCC
NM_020328.4:c.91+2906_91+2907insCCC	NP_064733.3:n.91+2906_91+2907insCCC
NM_020327.4:c.-66+1241_-66+1242insCCC	NP_064732.3:n.-66+1241_-66+1242insCCC