Canonical Allele Identifier: CA2573148783

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1460036
• ClinVar RCV Id: RCV001982961
• dbSNP Id: rs2139073551

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915383dup , CM000674.2:g.51915383dup	GRCh38
NC_000012.11:g.52309167dup , CM000674.1:g.52309167dup	GRCh37
NC_000012.10:g.50595434dup	NCBI36
NG_009549.1:g.12966dup , LRG_543:g.12966dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.661dup	ENSP00000446724.2:p.Ala221GlyfsTer?
ENST00000551576.6:c.931dup	ENSP00000455848.2:p.Ala311GlyfsTer?
ENST00000552678.2:c.931dup	ENSP00000457394.2:p.Ala311GlyfsTer?
ENST00000388922.9:c.931dup MANE Select	ENSP00000373574.4:p.Ala311GlyfsTer?
ENST00000388922.8:c.931dup	ENSP00000373574.4:p.Ala311GlyfsTer?
ENST00000419526.6:c.409dup	ENSP00000392492.2:p.Ala137GlyfsTer?
ENST00000550683.5:c.973dup	ENSP00000447884.1:p.Ala325GlyfsTer?
NM_000020.2:c.931dup , LRG_543t1:c.931dup	NP_000011.2:p.Ala311GlyfsTer?
NM_001077401.1:c.931dup	NP_001070869.1:p.Ala311GlyfsTer?
XM_005269235.2:c.931dup	XP_005269292.1:p.Ala311GlyfsTer?
XM_011539008.1:c.661dup	XP_011537310.1:p.Ala221GlyfsTer?
XM_024449279.1:c.142dup	XP_024305047.1:p.Ala48GlyfsTer?
NM_000020.3:c.931dup MANE Select	NP_000011.2:p.Ala311GlyfsTer?
NM_001077401.2:c.931dup	NP_001070869.1:p.Ala311GlyfsTer?