Canonical Allele Identifier: CA2036279782

Gene: ACVR1B

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51962647_51962648delinsTG , CM000674.2:g.51962647_51962648delinsTG	GRCh38
NC_000012.11:g.52356431_52356432delinsTG , CM000674.1:g.52356431_52356432delinsTG	GRCh37
NC_000012.10:g.50642698_50642699delinsTG	NCBI36
NG_022926.1:g.15981_15982delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257963.9:c.91+10813_91+10814delinsTG MANE Select	ENSP00000257963.4:n.91+10813_91+10814delinsTG
ENST00000257963.8:c.91+10813_91+10814delinsTG	ENSP00000257963.4:n.91+10813_91+10814delinsTG
ENST00000415850.6:c.91+10813_91+10814delinsTG	ENSP00000397550.2:n.91+10813_91+10814delinsTG
ENST00000426655.6:c.91+10813_91+10814delinsTG	ENSP00000390477.2:n.91+10813_91+10814delinsTG
ENST00000536420.5:c.-66+2460_-66+2461delinsTG	ENSP00000443218.1:n.-66+2460_-66+2461delinsTG
ENST00000541224.5:c.91+10813_91+10814delinsTG	ENSP00000442656.1:n.91+10813_91+10814delinsTG
ENST00000542485.1:c.-66+9148_-66+9149delinsTG	ENSP00000442885.1:n.-66+9148_-66+9149delinsTG
NM_004302.4:c.91+10813_91+10814delinsTG	NP_004293.1:n.91+10813_91+10814delinsTG
NM_020327.3:c.-66+9148_-66+9149delinsTG	NP_064732.3:n.-66+9148_-66+9149delinsTG
NM_020328.3:c.91+10813_91+10814delinsTG	NP_064733.3:n.91+10813_91+10814delinsTG
XM_011538966.1:c.91+10813_91+10814delinsTG	XP_011537268.1:n.91+10813_91+10814delinsTG
XM_011538967.1:c.91+10813_91+10814delinsTG	XP_011537269.1:n.91+10813_91+10814delinsTG
XM_011538966.3:c.91+10813_91+10814delinsTG	XP_011537268.1:n.91+10813_91+10814delinsTG
XM_011538967.3:c.91+10813_91+10814delinsTG	XP_011537269.1:n.91+10813_91+10814delinsTG
XM_017020201.2:c.91+10813_91+10814delinsTG	XP_016875690.1:n.91+10813_91+10814delinsTG
NM_004302.5:c.91+10813_91+10814delinsTG MANE Select	NP_004293.1:n.91+10813_91+10814delinsTG
NM_020328.4:c.91+10813_91+10814delinsTG	NP_064733.3:n.91+10813_91+10814delinsTG
NM_020327.4:c.-66+9148_-66+9149delinsTG	NP_064732.3:n.-66+9148_-66+9149delinsTG