Canonical Allele Identifier: CA947672436

Gene: ACVR1B

Linked Data

• gnomAD v3: 12-51962524-TAACCA-T
• gnomAD v4: 12-51962524-TAACCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51962527_51962531del , CM000674.2:g.51962527_51962531del	GRCh38
NC_000012.11:g.52356311_52356315del , CM000674.1:g.52356311_52356315del	GRCh37
NC_000012.10:g.50642578_50642582del	NCBI36
NG_022926.1:g.15861_15865del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257963.9:c.91+10693_91+10697del MANE Select	ENSP00000257963.4:n.91+10693_91+10697del
ENST00000257963.8:c.91+10693_91+10697del	ENSP00000257963.4:n.91+10693_91+10697del
ENST00000415850.6:c.91+10693_91+10697del	ENSP00000397550.2:n.91+10693_91+10697del
ENST00000426655.6:c.91+10693_91+10697del	ENSP00000390477.2:n.91+10693_91+10697del
ENST00000536420.5:c.-66+2340_-66+2344del	ENSP00000443218.1:n.-66+2340_-66+2344del
ENST00000541224.5:c.91+10693_91+10697del	ENSP00000442656.1:n.91+10693_91+10697del
ENST00000542485.1:c.-66+9028_-66+9032del	ENSP00000442885.1:n.-66+9028_-66+9032del
NM_004302.4:c.91+10693_91+10697del	NP_004293.1:n.91+10693_91+10697del
NM_020327.3:c.-66+9028_-66+9032del	NP_064732.3:n.-66+9028_-66+9032del
NM_020328.3:c.91+10693_91+10697del	NP_064733.3:n.91+10693_91+10697del
XM_011538966.1:c.91+10693_91+10697del	XP_011537268.1:n.91+10693_91+10697del
XM_011538967.1:c.91+10693_91+10697del	XP_011537269.1:n.91+10693_91+10697del
XM_011538966.3:c.91+10693_91+10697del	XP_011537268.1:n.91+10693_91+10697del
XM_011538967.3:c.91+10693_91+10697del	XP_011537269.1:n.91+10693_91+10697del
XM_017020201.2:c.91+10693_91+10697del	XP_016875690.1:n.91+10693_91+10697del
NM_004302.5:c.91+10693_91+10697del MANE Select	NP_004293.1:n.91+10693_91+10697del
NM_020328.4:c.91+10693_91+10697del	NP_064733.3:n.91+10693_91+10697del
NM_020327.4:c.-66+9028_-66+9032del	NP_064732.3:n.-66+9028_-66+9032del