Canonical Allele Identifier: CA947672439

Gene: ACVR1B

Linked Data

• gnomAD v3: 12-51962528-C-CTTTT
• gnomAD v4: 12-51962528-C-CTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51962528_51962529insTTTT , CM000674.2:g.51962528_51962529insTTTT	GRCh38
NC_000012.11:g.52356312_52356313insTTTT , CM000674.1:g.52356312_52356313insTTTT	GRCh37
NC_000012.10:g.50642579_50642580insTTTT	NCBI36
NG_022926.1:g.15862_15863insTTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000257963.9:c.91+10694_91+10695insTTTT MANE Select	ENSP00000257963.4:n.91+10694_91+10695insTTTT
ENST00000257963.8:c.91+10694_91+10695insTTTT	ENSP00000257963.4:n.91+10694_91+10695insTTTT
ENST00000415850.6:c.91+10694_91+10695insTTTT	ENSP00000397550.2:n.91+10694_91+10695insTTTT
ENST00000426655.6:c.91+10694_91+10695insTTTT	ENSP00000390477.2:n.91+10694_91+10695insTTTT
ENST00000536420.5:c.-66+2341_-66+2342insTTTT	ENSP00000443218.1:n.-66+2341_-66+2342insTTTT
ENST00000541224.5:c.91+10694_91+10695insTTTT	ENSP00000442656.1:n.91+10694_91+10695insTTTT
ENST00000542485.1:c.-66+9029_-66+9030insTTTT	ENSP00000442885.1:n.-66+9029_-66+9030insTTTT
NM_004302.4:c.91+10694_91+10695insTTTT	NP_004293.1:n.91+10694_91+10695insTTTT
NM_020327.3:c.-66+9029_-66+9030insTTTT	NP_064732.3:n.-66+9029_-66+9030insTTTT
NM_020328.3:c.91+10694_91+10695insTTTT	NP_064733.3:n.91+10694_91+10695insTTTT
XM_011538966.1:c.91+10694_91+10695insTTTT	XP_011537268.1:n.91+10694_91+10695insTTTT
XM_011538967.1:c.91+10694_91+10695insTTTT	XP_011537269.1:n.91+10694_91+10695insTTTT
XM_011538966.3:c.91+10694_91+10695insTTTT	XP_011537268.1:n.91+10694_91+10695insTTTT
XM_011538967.3:c.91+10694_91+10695insTTTT	XP_011537269.1:n.91+10694_91+10695insTTTT
XM_017020201.2:c.91+10694_91+10695insTTTT	XP_016875690.1:n.91+10694_91+10695insTTTT
NM_004302.5:c.91+10694_91+10695insTTTT MANE Select	NP_004293.1:n.91+10694_91+10695insTTTT
NM_020328.4:c.91+10694_91+10695insTTTT	NP_064733.3:n.91+10694_91+10695insTTTT
NM_020327.4:c.-66+9029_-66+9030insTTTT	NP_064732.3:n.-66+9029_-66+9030insTTTT