Canonical Allele Identifier: CA2580086444

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1732360
• ClinVar RCV Id: RCV003509713 ; RCV002459406

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913598_51913605dup , CM000674.2:g.51913598_51913605dup	GRCh38
NC_000012.11:g.52307382_52307389dup , CM000674.1:g.52307382_52307389dup	GRCh37
NC_000012.10:g.50593649_50593656dup	NCBI36
NG_009549.1:g.11181_11188dup , LRG_543:g.11181_11188dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+248_355+255dup	ENSP00000446724.2:n.355+248_355+255dup
ENST00000551576.6:c.353_360dup	ENSP00000455848.2:p.Leu121SerfsTer4
ENST00000552678.2:c.353_360dup	ENSP00000457394.2:p.Leu121SerfsTer4
ENST00000388922.9:c.353_360dup MANE Select	ENSP00000373574.4:p.Leu121SerfsTer4
ENST00000388922.8:c.353_360dup	ENSP00000373574.4:p.Leu121SerfsTer4
ENST00000419526.6:c.104-841_104-834dup	ENSP00000392492.2:n.104-841_104-834dup
ENST00000547400.5:c.355+248_355+255dup	ENSP00000446724.1:n.355+248_355+255dup
ENST00000550683.5:c.395_402dup	ENSP00000447884.1:p.Leu135SerfsTer4
NM_000020.2:c.353_360dup , LRG_543t1:c.353_360dup	NP_000011.2:p.Leu121SerfsTer4
NM_001077401.1:c.353_360dup	NP_001070869.1:p.Leu121SerfsTer4
XM_005269235.2:c.353_360dup	XP_005269292.1:p.Leu121SerfsTer4
XM_011539008.1:c.355+248_355+255dup	XP_011537310.1:n.355+248_355+255dup
XM_024449279.1:c.-337_-330dup	XP_024305047.1:n.-337_-330dup
NM_000020.3:c.353_360dup MANE Select	NP_000011.2:p.Leu121SerfsTer4
NM_001077401.2:c.353_360dup	NP_001070869.1:p.Leu121SerfsTer4