Canonical Allele Identifier: CA605058799

Gene: ACVR1B

Linked Data

• dbSNP Id: rs148906077
• gnomAD v2: 12-52380974-T-TAAAC
• gnomAD v3: 12-51987190-T-TAAAC
• gnomAD v4: 12-51987190-T-TAAAC
• MyVariant Identifiers: chr12:g.52380978_52380979insAAAC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51987200_51987203dup , CM000674.2:g.51987200_51987203dup	GRCh38
NC_000012.11:g.52380984_52380987dup , CM000674.1:g.52380984_52380987dup	GRCh37
NC_000012.10:g.50667251_50667254dup	NCBI36
NG_022926.1:g.40534_40537dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257963.9:c.1261+258_1261+261dup MANE Select	ENSP00000257963.4:n.1261+258_1261+261dup
ENST00000257963.8:c.1261+258_1261+261dup	ENSP00000257963.4:n.1261+258_1261+261dup
ENST00000415850.6:c.1519_1522dup	ENSP00000397550.2:n.1519_1522dup
ENST00000426655.6:c.1261+258_1261+261dup	ENSP00000390477.2:n.1261+258_1261+261dup
ENST00000541224.5:c.1384+258_1384+261dup	ENSP00000442656.1:n.1384+258_1384+261dup
ENST00000542485.1:c.1105+258_1105+261dup	ENSP00000442885.1:n.1105+258_1105+261dup
ENST00000563121.1:n.289+1852_289+1855dup
NM_004302.4:c.1261+258_1261+261dup	NP_004293.1:n.1261+258_1261+261dup
NM_020327.3:c.1105+258_1105+261dup	NP_064732.3:n.1105+258_1105+261dup
NM_020328.3:c.1384+258_1384+261dup	NP_064733.3:n.1384+258_1384+261dup
XM_011538966.1:c.1259+1852_1259+1855dup	XP_011537268.1:n.1259+1852_1259+1855dup
XM_011538966.3:c.1259+1852_1259+1855dup	XP_011537268.1:n.1259+1852_1259+1855dup
XM_017020201.2:c.1136+1852_1136+1855dup	XP_016875690.1:n.1136+1852_1136+1855dup
NM_004302.5:c.1261+258_1261+261dup MANE Select	NP_004293.1:n.1261+258_1261+261dup
NM_020328.4:c.1384+258_1384+261dup	NP_064733.3:n.1384+258_1384+261dup
NM_020327.4:c.1105+258_1105+261dup	NP_064732.3:n.1105+258_1105+261dup