Canonical Allele Identifier: CA947668957

Gene: ACVRL1

Linked Data

• gnomAD v3: 12-51920924-A-AGGGGGCAGG
• gnomAD v4: 12-51920924-A-AGGGGGCAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920930_51920931insAGGGGGGGC , CM000674.2:g.51920930_51920931insAGGGGGGGC	GRCh38
NC_000012.11:g.52314714_52314715insAGGGGGGGC , CM000674.1:g.52314714_52314715insAGGGGGGGC	GRCh37
NC_000012.10:g.50600981_50600982insAGGGGGGGC	NCBI36
NG_009549.1:g.18513_18514insAGGGGGGGC , LRG_543:g.18513_18514insAGGGGGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*37_*38insAGGGGGGGC	ENSP00000455848.2:n.*37_*38insAGGGGGGGC
ENST00000388922.9:c.*37_*38insAGGGGGGGC MANE Select	ENSP00000373574.4:n.*37_*38insAGGGGGGGC
ENST00000388922.8:c.*37_*38insAGGGGGGGC	ENSP00000373574.4:n.*37_*38insAGGGGGGGC
ENST00000419526.6:c.*37_*38insAGGGGGGGC	ENSP00000392492.2:n.*37_*38insAGGGGGGGC
ENST00000550683.5:c.*37_*38insAGGGGGGGC	ENSP00000447884.1:n.*37_*38insAGGGGGGGC
NM_000020.2:c.*37_*38insAGGGGGGGC , LRG_543t1:c.*37_*38insAGGGGGGGC	NP_000011.2:n.*37_*38insAGGGGGGGC
NM_001077401.1:c.*37_*38insAGGGGGGGC	NP_001070869.1:n.*37_*38insAGGGGGGGC
XM_005269235.2:c.*37_*38insAGGGGGGGC	XP_005269292.1:n.*37_*38insAGGGGGGGC
XM_011539008.1:c.*37_*38insAGGGGGGGC	XP_011537310.1:n.*37_*38insAGGGGGGGC
XM_024449279.1:c.*37_*38insAGGGGGGGC	XP_024305047.1:n.*37_*38insAGGGGGGGC
NM_000020.3:c.*37_*38insAGGGGGGGC MANE Select	NP_000011.2:n.*37_*38insAGGGGGGGC
NM_001077401.2:c.*37_*38insAGGGGGGGC	NP_001070869.1:n.*37_*38insAGGGGGGGC