Canonical Allele Identifier: CA947669902

Gene: ACVR1B

Linked Data

• dbSNP Id: rs1941388316
• gnomAD v3: 12-51955393-CGAT-C
• gnomAD v4: 12-51955393-CGAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51955396_51955398del , CM000674.2:g.51955396_51955398del	GRCh38
NC_000012.11:g.52349180_52349182del , CM000674.1:g.52349180_52349182del	GRCh37
NC_000012.10:g.50635447_50635449del	NCBI36
NG_022926.1:g.8730_8732del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257963.9:c.91+3562_91+3564del MANE Select	ENSP00000257963.4:n.91+3562_91+3564del
ENST00000257963.8:c.91+3562_91+3564del	ENSP00000257963.4:n.91+3562_91+3564del
ENST00000415850.6:c.91+3562_91+3564del	ENSP00000397550.2:n.91+3562_91+3564del
ENST00000426655.6:c.91+3562_91+3564del	ENSP00000390477.2:n.91+3562_91+3564del
ENST00000536420.5:c.-198+3562_-198+3564del	ENSP00000443218.1:n.-198+3562_-198+3564del
ENST00000541224.5:c.91+3562_91+3564del	ENSP00000442656.1:n.91+3562_91+3564del
ENST00000542485.1:c.-66+1897_-66+1899del	ENSP00000442885.1:n.-66+1897_-66+1899del
NM_004302.4:c.91+3562_91+3564del	NP_004293.1:n.91+3562_91+3564del
NM_020327.3:c.-66+1897_-66+1899del	NP_064732.3:n.-66+1897_-66+1899del
NM_020328.3:c.91+3562_91+3564del	NP_064733.3:n.91+3562_91+3564del
XM_011538966.1:c.91+3562_91+3564del	XP_011537268.1:n.91+3562_91+3564del
XM_011538967.1:c.91+3562_91+3564del	XP_011537269.1:n.91+3562_91+3564del
XM_011538966.3:c.91+3562_91+3564del	XP_011537268.1:n.91+3562_91+3564del
XM_011538967.3:c.91+3562_91+3564del	XP_011537269.1:n.91+3562_91+3564del
XM_017020201.2:c.91+3562_91+3564del	XP_016875690.1:n.91+3562_91+3564del
NM_004302.5:c.91+3562_91+3564del MANE Select	NP_004293.1:n.91+3562_91+3564del
NM_020328.4:c.91+3562_91+3564del	NP_064733.3:n.91+3562_91+3564del
NM_020327.4:c.-66+1897_-66+1899del	NP_064732.3:n.-66+1897_-66+1899del