Canonical Allele Identifier: CA2036279601

Gene: ACVR1B

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51962542_51962553delinsTTGCTTTACTGC , CM000674.2:g.51962542_51962553delinsTTGCTTTACTGC	GRCh38
NC_000012.11:g.52356326_52356337delinsTTGCTTTACTGC , CM000674.1:g.52356326_52356337delinsTTGCTTTACTGC	GRCh37
NC_000012.10:g.50642593_50642604delinsTTGCTTTACTGC	NCBI36
NG_022926.1:g.15876_15887delinsTTGCTTTACTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257963.9:c.91+10708_91+10719delinsTTGCTTTACTGC MANE Select	ENSP00000257963.4:n.91+10708_91+10719delinsTTGCTTTACTGC
ENST00000257963.8:c.91+10708_91+10719delinsTTGCTTTACTGC	ENSP00000257963.4:n.91+10708_91+10719delinsTTGCTTTACTGC
ENST00000415850.6:c.91+10708_91+10719delinsTTGCTTTACTGC	ENSP00000397550.2:n.91+10708_91+10719delinsTTGCTTTACTGC
ENST00000426655.6:c.91+10708_91+10719delinsTTGCTTTACTGC	ENSP00000390477.2:n.91+10708_91+10719delinsTTGCTTTACTGC
ENST00000536420.5:c.-66+2355_-66+2366delinsTTGCTTTACTGC	ENSP00000443218.1:n.-66+2355_-66+2366delinsTTGCTTTACTGC
ENST00000541224.5:c.91+10708_91+10719delinsTTGCTTTACTGC	ENSP00000442656.1:n.91+10708_91+10719delinsTTGCTTTACTGC
ENST00000542485.1:c.-66+9043_-66+9054delinsTTGCTTTACTGC	ENSP00000442885.1:n.-66+9043_-66+9054delinsTTGCTTTACTGC
NM_004302.4:c.91+10708_91+10719delinsTTGCTTTACTGC	NP_004293.1:n.91+10708_91+10719delinsTTGCTTTACTGC
NM_020327.3:c.-66+9043_-66+9054delinsTTGCTTTACTGC	NP_064732.3:n.-66+9043_-66+9054delinsTTGCTTTACTGC
NM_020328.3:c.91+10708_91+10719delinsTTGCTTTACTGC	NP_064733.3:n.91+10708_91+10719delinsTTGCTTTACTGC
XM_011538966.1:c.91+10708_91+10719delinsTTGCTTTACTGC	XP_011537268.1:n.91+10708_91+10719delinsTTGCTTTACTGC
XM_011538967.1:c.91+10708_91+10719delinsTTGCTTTACTGC	XP_011537269.1:n.91+10708_91+10719delinsTTGCTTTACTGC
XM_011538966.3:c.91+10708_91+10719delinsTTGCTTTACTGC	XP_011537268.1:n.91+10708_91+10719delinsTTGCTTTACTGC
XM_011538967.3:c.91+10708_91+10719delinsTTGCTTTACTGC	XP_011537269.1:n.91+10708_91+10719delinsTTGCTTTACTGC
XM_017020201.2:c.91+10708_91+10719delinsTTGCTTTACTGC	XP_016875690.1:n.91+10708_91+10719delinsTTGCTTTACTGC
NM_004302.5:c.91+10708_91+10719delinsTTGCTTTACTGC MANE Select	NP_004293.1:n.91+10708_91+10719delinsTTGCTTTACTGC
NM_020328.4:c.91+10708_91+10719delinsTTGCTTTACTGC	NP_064733.3:n.91+10708_91+10719delinsTTGCTTTACTGC
NM_020327.4:c.-66+9043_-66+9054delinsTTGCTTTACTGC	NP_064732.3:n.-66+9043_-66+9054delinsTTGCTTTACTGC