Canonical Allele Identifier: CA2573053703

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1322795
• ClinVar RCV Id: RCV001783170
• dbSNP Id: rs2139067888

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913755del , CM000674.2:g.51913755del	GRCh38
NC_000012.11:g.52307539del , CM000674.1:g.52307539del	GRCh37
NC_000012.10:g.50593806del	NCBI36
NG_009549.1:g.11338del , LRG_543:g.11338del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+405del	ENSP00000446724.2:n.355+405del
ENST00000551576.6:c.510del	ENSP00000455848.2:p.Asp171ThrfsTer?
ENST00000552678.2:c.510del	ENSP00000457394.2:p.Asp171ThrfsTer?
ENST00000388922.9:c.510del MANE Select	ENSP00000373574.4:p.Asp171ThrfsTer?
ENST00000388922.8:c.510del	ENSP00000373574.4:p.Asp171ThrfsTer?
ENST00000419526.6:c.104-684del	ENSP00000392492.2:n.104-684del
ENST00000547400.5:c.355+405del	ENSP00000446724.1:n.355+405del
ENST00000550683.5:c.552del	ENSP00000447884.1:p.Asp185ThrfsTer?
NM_000020.2:c.510del , LRG_543t1:c.510del	NP_000011.2:p.Asp171ThrfsTer?
NM_001077401.1:c.510del	NP_001070869.1:p.Asp171ThrfsTer?
XM_005269235.2:c.510del	XP_005269292.1:p.Asp171ThrfsTer?
XM_011539008.1:c.355+405del	XP_011537310.1:n.355+405del
XM_024449279.1:c.-180del	XP_024305047.1:n.-180del
NM_000020.3:c.510del MANE Select	NP_000011.2:p.Asp171ThrfsTer?
NM_001077401.2:c.510del	NP_001070869.1:p.Asp171ThrfsTer?