Canonical Allele Identifier: CA2573148773

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1359265
• ClinVar RCV Id: RCV001894431 ; RCV002386613
• dbSNP Id: rs2139064592

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913167_51913180del , CM000674.2:g.51913167_51913180del	GRCh38
NC_000012.11:g.52306951_52306964del , CM000674.1:g.52306951_52306964del	GRCh37
NC_000012.10:g.50593218_50593231del	NCBI36
NG_009549.1:g.10750_10763del , LRG_543:g.10750_10763del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.172_185del	ENSP00000446724.2:p.Pro58GlyfsTer?
ENST00000551576.6:c.130_143del	ENSP00000455848.2:p.Pro44GlyfsTer?
ENST00000552678.2:c.130_143del	ENSP00000457394.2:p.Pro44GlyfsTer?
ENST00000388922.9:c.130_143del MANE Select	ENSP00000373574.4:p.Pro44GlyfsTer?
ENST00000388922.8:c.130_143del	ENSP00000373574.4:p.Pro44GlyfsTer?
ENST00000419526.6:c.103+632_103+645del	ENSP00000392492.2:n.103+632_103+645del
ENST00000547400.5:c.172_185del	ENSP00000446724.1:p.Pro58GlyfsTer?
ENST00000550683.5:c.172_185del	ENSP00000447884.1:p.Pro58GlyfsTer?
ENST00000551576.5:c.130_143del	ENSP00000455848.1:p.Pro44GlyfsTer?
NM_000020.2:c.130_143del , LRG_543t1:c.130_143del	NP_000011.2:p.Pro44GlyfsTer?
NM_001077401.1:c.130_143del	NP_001070869.1:p.Pro44GlyfsTer?
XM_005269235.2:c.130_143del	XP_005269292.1:p.Pro44GlyfsTer?
XM_011539008.1:c.172_185del	XP_011537310.1:p.Pro58GlyfsTer?
NM_000020.3:c.130_143del MANE Select	NP_000011.2:p.Pro44GlyfsTer?
NM_001077401.2:c.130_143del	NP_001070869.1:p.Pro44GlyfsTer?