Canonical Allele Identifier: CA2580086441

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1786575
• ClinVar RCV Id: RCV002430540

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913251_51913256del , CM000674.2:g.51913251_51913256del	GRCh38
NC_000012.11:g.52307035_52307040del , CM000674.1:g.52307035_52307040del	GRCh37
NC_000012.10:g.50593302_50593307del	NCBI36
NG_009549.1:g.10834_10839del , LRG_543:g.10834_10839del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.256_261del	ENSP00000446724.2:p.Leu86_His87del
ENST00000551576.6:c.214_219del	ENSP00000455848.2:p.Leu72_His73del
ENST00000552678.2:c.214_219del	ENSP00000457394.2:p.Leu72_His73del
ENST00000388922.9:c.214_219del MANE Select	ENSP00000373574.4:p.Leu72_His73del
ENST00000388922.8:c.214_219del	ENSP00000373574.4:p.Leu72_His73del
ENST00000419526.6:c.103+716_103+721del	ENSP00000392492.2:n.103+716_103+721del
ENST00000547400.5:c.256_261del	ENSP00000446724.1:p.Leu86_His87del
ENST00000550683.5:c.256_261del	ENSP00000447884.1:p.Leu86_His87del
ENST00000551576.5:c.214_219del	ENSP00000455848.1:p.Leu72_His73del
NM_000020.2:c.214_219del , LRG_543t1:c.214_219del	NP_000011.2:p.Leu72_His73del
NM_001077401.1:c.214_219del	NP_001070869.1:p.Leu72_His73del
XM_005269235.2:c.214_219del	XP_005269292.1:p.Leu72_His73del
XM_011539008.1:c.256_261del	XP_011537310.1:p.Leu86_His87del
NM_000020.3:c.214_219del MANE Select	NP_000011.2:p.Leu72_His73del
NM_001077401.2:c.214_219del	NP_001070869.1:p.Leu72_His73del