Canonical Allele Identifier: CA2580086430

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1769388
• ClinVar RCV Id: RCV002380826

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913167_51913183delinsTGCACAGTAGTG , CM000674.2:g.51913167_51913183delinsTGCACAGTAGTG	GRCh38
NC_000012.11:g.52306951_52306967delinsTGCACAGTAGTG , CM000674.1:g.52306951_52306967delinsTGCACAGTAGTG	GRCh37
NC_000012.10:g.50593218_50593234delinsTGCACAGTAGTG	NCBI36
NG_009549.1:g.10750_10766delinsTGCACAGTAGTG , LRG_543:g.10750_10766delinsTGCACAGTAGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.172_188delinsTGCACAGTAGTG	ENSP00000446724.2:p.Pro58CysfsTer?
ENST00000551576.6:c.130_146delinsTGCACAGTAGTG	ENSP00000455848.2:p.Pro44CysfsTer?
ENST00000552678.2:c.130_146delinsTGCACAGTAGTG	ENSP00000457394.2:p.Pro44CysfsTer?
ENST00000388922.9:c.130_146delinsTGCACAGTAGTG MANE Select	ENSP00000373574.4:p.Pro44CysfsTer?
ENST00000388922.8:c.130_146delinsTGCACAGTAGTG	ENSP00000373574.4:p.Pro44CysfsTer?
ENST00000419526.6:c.103+632_103+648delinsTGCACAGTAGTG	ENSP00000392492.2:n.103+632_103+648delinsTGCACAGTAGTG
ENST00000547400.5:c.172_188delinsTGCACAGTAGTG	ENSP00000446724.1:p.Pro58CysfsTer?
ENST00000550683.5:c.172_188delinsTGCACAGTAGTG	ENSP00000447884.1:p.Pro58CysfsTer?
ENST00000551576.5:c.130_146delinsTGCACAGTAGTG	ENSP00000455848.1:p.Pro44CysfsTer?
NM_000020.2:c.130_146delinsTGCACAGTAGTG , LRG_543t1:c.130_146delinsTGCACAGTAGTG	NP_000011.2:p.Pro44CysfsTer?
NM_001077401.1:c.130_146delinsTGCACAGTAGTG	NP_001070869.1:p.Pro44CysfsTer?
XM_005269235.2:c.130_146delinsTGCACAGTAGTG	XP_005269292.1:p.Pro44CysfsTer?
XM_011539008.1:c.172_188delinsTGCACAGTAGTG	XP_011537310.1:p.Pro58CysfsTer?
NM_000020.3:c.130_146delinsTGCACAGTAGTG MANE Select	NP_000011.2:p.Pro44CysfsTer?
NM_001077401.2:c.130_146delinsTGCACAGTAGTG	NP_001070869.1:p.Pro44CysfsTer?