Canonical Allele Identifier: CA1139767800

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1775898
• ClinVar RCV Id: RCV002398415

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913196_51913198del , CM000674.2:g.51913196_51913198del	GRCh38
NC_000012.11:g.52306980_52306982del , CM000674.1:g.52306980_52306982del	GRCh37
NC_000012.10:g.50593247_50593249del	NCBI36
NG_009549.1:g.10779_10781del , LRG_543:g.10779_10781del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.201_203del	ENSP00000446724.2:p.Val68del
ENST00000551576.6:c.159_161del	ENSP00000455848.2:p.Val54del
ENST00000552678.2:c.159_161del	ENSP00000457394.2:p.Val54del
ENST00000388922.9:c.159_161del MANE Select	ENSP00000373574.4:p.Val54del
ENST00000388922.8:c.159_161del	ENSP00000373574.4:p.Val54del
ENST00000419526.6:c.103+661_103+663del	ENSP00000392492.2:n.103+661_103+663del
ENST00000547400.5:c.201_203del	ENSP00000446724.1:p.Val68del
ENST00000550683.5:c.201_203del	ENSP00000447884.1:p.Val68del
ENST00000551576.5:c.159_161del	ENSP00000455848.1:p.Val54del
NM_000020.2:c.159_161del , LRG_543t1:c.159_161del	NP_000011.2:p.Val54del
NM_001077401.1:c.159_161del	NP_001070869.1:p.Val54del
XM_005269235.2:c.159_161del	XP_005269292.1:p.Val54del
XM_011539008.1:c.201_203del	XP_011537310.1:p.Val68del
NM_000020.3:c.159_161del MANE Select	NP_000011.2:p.Val54del
NM_001077401.2:c.159_161del	NP_001070869.1:p.Val54del