Canonical Allele Identifier: CA2036279959

Gene: ACVR1B

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51962777_51962778delinsTA , CM000674.2:g.51962777_51962778delinsTA	GRCh38
NC_000012.11:g.52356561_52356562delinsTA , CM000674.1:g.52356561_52356562delinsTA	GRCh37
NC_000012.10:g.50642828_50642829delinsTA	NCBI36
NG_022926.1:g.16111_16112delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257963.9:c.91+10943_91+10944delinsTA MANE Select	ENSP00000257963.4:n.91+10943_91+10944delinsTA
ENST00000257963.8:c.91+10943_91+10944delinsTA	ENSP00000257963.4:n.91+10943_91+10944delinsTA
ENST00000415850.6:c.91+10943_91+10944delinsTA	ENSP00000397550.2:n.91+10943_91+10944delinsTA
ENST00000426655.6:c.91+10943_91+10944delinsTA	ENSP00000390477.2:n.91+10943_91+10944delinsTA
ENST00000536420.5:c.-66+2590_-66+2591delinsTA	ENSP00000443218.1:n.-66+2590_-66+2591delinsTA
ENST00000541224.5:c.91+10943_91+10944delinsTA	ENSP00000442656.1:n.91+10943_91+10944delinsTA
ENST00000542485.1:c.-66+9278_-66+9279delinsTA	ENSP00000442885.1:n.-66+9278_-66+9279delinsTA
NM_004302.4:c.91+10943_91+10944delinsTA	NP_004293.1:n.91+10943_91+10944delinsTA
NM_020327.3:c.-66+9278_-66+9279delinsTA	NP_064732.3:n.-66+9278_-66+9279delinsTA
NM_020328.3:c.91+10943_91+10944delinsTA	NP_064733.3:n.91+10943_91+10944delinsTA
XM_011538966.1:c.91+10943_91+10944delinsTA	XP_011537268.1:n.91+10943_91+10944delinsTA
XM_011538967.1:c.91+10943_91+10944delinsTA	XP_011537269.1:n.91+10943_91+10944delinsTA
XM_011538966.3:c.91+10943_91+10944delinsTA	XP_011537268.1:n.91+10943_91+10944delinsTA
XM_011538967.3:c.91+10943_91+10944delinsTA	XP_011537269.1:n.91+10943_91+10944delinsTA
XM_017020201.2:c.91+10943_91+10944delinsTA	XP_016875690.1:n.91+10943_91+10944delinsTA
NM_004302.5:c.91+10943_91+10944delinsTA MANE Select	NP_004293.1:n.91+10943_91+10944delinsTA
NM_020328.4:c.91+10943_91+10944delinsTA	NP_064733.3:n.91+10943_91+10944delinsTA
NM_020327.4:c.-66+9278_-66+9279delinsTA	NP_064732.3:n.-66+9278_-66+9279delinsTA