Canonical Allele Identifier: CA645509322

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 439378
• ClinVar RCV Id: RCV000506541
• dbSNP Id: rs1555152526
• MyVariant Identifiers: chr12:g.52307092del (hg19) ; chr12:g.51913308del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913308del , CM000674.2:g.51913308del	GRCh38
NC_000012.11:g.52307092del , CM000674.1:g.52307092del	GRCh37
NC_000012.10:g.50593359del	NCBI36
NG_009549.1:g.10891del , LRG_543:g.10891del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.313del	ENSP00000446724.2:p.Asp105ThrfsTer?
ENST00000551576.6:c.271del	ENSP00000455848.2:p.Asp91ThrfsTer?
ENST00000552678.2:c.271del	ENSP00000457394.2:p.Asp91ThrfsTer?
ENST00000388922.9:c.271del MANE Select	ENSP00000373574.4:p.Asp91ThrfsTer?
ENST00000388922.8:c.271del	ENSP00000373574.4:p.Asp91ThrfsTer?
ENST00000419526.6:c.103+773del	ENSP00000392492.2:n.103+773del
ENST00000547400.5:c.313del	ENSP00000446724.1:p.Asp105ThrfsTer?
ENST00000550683.5:c.313del	ENSP00000447884.1:p.Asp105ThrfsTer?
NM_000020.2:c.271del , LRG_543t1:c.271del	NP_000011.2:p.Asp91ThrfsTer?
NM_001077401.1:c.271del	NP_001070869.1:p.Asp91ThrfsTer?
XM_005269235.2:c.271del	XP_005269292.1:p.Asp91ThrfsTer?
XM_011539008.1:c.313del	XP_011537310.1:p.Asp105ThrfsTer?
XM_024449279.1:c.-419del	XP_024305047.1:n.-419del
NM_000020.3:c.271del MANE Select	NP_000011.2:p.Asp91ThrfsTer?
NM_001077401.2:c.271del	NP_001070869.1:p.Asp91ThrfsTer?