Canonical Allele Identifier: CA2036279508

Gene: ACVR1B

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51962450_51962451delinsGT , CM000674.2:g.51962450_51962451delinsGT	GRCh38
NC_000012.11:g.52356234_52356235delinsGT , CM000674.1:g.52356234_52356235delinsGT	GRCh37
NC_000012.10:g.50642501_50642502delinsGT	NCBI36
NG_022926.1:g.15784_15785delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257963.9:c.91+10616_91+10617delinsGT MANE Select	ENSP00000257963.4:n.91+10616_91+10617delinsGT
ENST00000257963.8:c.91+10616_91+10617delinsGT	ENSP00000257963.4:n.91+10616_91+10617delinsGT
ENST00000415850.6:c.91+10616_91+10617delinsGT	ENSP00000397550.2:n.91+10616_91+10617delinsGT
ENST00000426655.6:c.91+10616_91+10617delinsGT	ENSP00000390477.2:n.91+10616_91+10617delinsGT
ENST00000536420.5:c.-66+2263_-66+2264delinsGT	ENSP00000443218.1:n.-66+2263_-66+2264delinsGT
ENST00000541224.5:c.91+10616_91+10617delinsGT	ENSP00000442656.1:n.91+10616_91+10617delinsGT
ENST00000542485.1:c.-66+8951_-66+8952delinsGT	ENSP00000442885.1:n.-66+8951_-66+8952delinsGT
NM_004302.4:c.91+10616_91+10617delinsGT	NP_004293.1:n.91+10616_91+10617delinsGT
NM_020327.3:c.-66+8951_-66+8952delinsGT	NP_064732.3:n.-66+8951_-66+8952delinsGT
NM_020328.3:c.91+10616_91+10617delinsGT	NP_064733.3:n.91+10616_91+10617delinsGT
XM_011538966.1:c.91+10616_91+10617delinsGT	XP_011537268.1:n.91+10616_91+10617delinsGT
XM_011538967.1:c.91+10616_91+10617delinsGT	XP_011537269.1:n.91+10616_91+10617delinsGT
XM_011538966.3:c.91+10616_91+10617delinsGT	XP_011537268.1:n.91+10616_91+10617delinsGT
XM_011538967.3:c.91+10616_91+10617delinsGT	XP_011537269.1:n.91+10616_91+10617delinsGT
XM_017020201.2:c.91+10616_91+10617delinsGT	XP_016875690.1:n.91+10616_91+10617delinsGT
NM_004302.5:c.91+10616_91+10617delinsGT MANE Select	NP_004293.1:n.91+10616_91+10617delinsGT
NM_020328.4:c.91+10616_91+10617delinsGT	NP_064733.3:n.91+10616_91+10617delinsGT
NM_020327.4:c.-66+8951_-66+8952delinsGT	NP_064732.3:n.-66+8951_-66+8952delinsGT