Canonical Allele Identifier: CA2573148771

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1458200
• ClinVar RCV Id: RCV001949443
• dbSNP Id: rs2139062776

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912524dup , CM000674.2:g.51912524dup	GRCh38
NC_000012.11:g.52306308dup , CM000674.1:g.52306308dup	GRCh37
NC_000012.10:g.50592575dup	NCBI36
NG_009549.1:g.10107dup , LRG_543:g.10107dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.92dup	ENSP00000446724.2:p.Leu31PhefsTer21
ENST00000551576.6:c.50dup	ENSP00000455848.2:p.Leu17PhefsTer21
ENST00000552678.2:c.50dup	ENSP00000457394.2:p.Leu17PhefsTer21
ENST00000388922.9:c.50dup MANE Select	ENSP00000373574.4:p.Leu17PhefsTer21
ENST00000388922.8:c.50dup	ENSP00000373574.4:p.Leu17PhefsTer21
ENST00000419526.6:c.92dup	ENSP00000392492.2:p.Leu31PhefsTer20
ENST00000547400.5:c.92dup	ENSP00000446724.1:p.Leu31PhefsTer21
ENST00000550683.5:c.92dup	ENSP00000447884.1:p.Leu31PhefsTer21
ENST00000551576.5:c.50dup	ENSP00000455848.1:p.Leu17PhefsTer21
NM_000020.2:c.50dup , LRG_543t1:c.50dup	NP_000011.2:p.Leu17PhefsTer21
NM_001077401.1:c.50dup	NP_001070869.1:p.Leu17PhefsTer21
XM_005269235.2:c.50dup	XP_005269292.1:p.Leu17PhefsTer21
XM_011539008.1:c.92dup	XP_011537310.1:p.Leu31PhefsTer21
NM_000020.3:c.50dup MANE Select	NP_000011.2:p.Leu17PhefsTer21
NM_001077401.2:c.50dup	NP_001070869.1:p.Leu17PhefsTer21