Canonical Allele Identifier: CA913190987

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 617962
• ClinVar RCV Id: RCV000755788
• dbSNP Id: rs1565595009

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916131del , CM000674.2:g.51916131del	GRCh38
NC_000012.11:g.52309915del , CM000674.1:g.52309915del	GRCh37
NC_000012.10:g.50596182del	NCBI36
NG_009549.1:g.13714del , LRG_543:g.13714del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.874del	ENSP00000446724.2:p.Asp292ThrfsTer?
ENST00000551576.6:c.1144del	ENSP00000455848.2:p.Asp382ThrfsTer?
ENST00000552678.2:c.1144del	ENSP00000457394.2:p.Asp382ThrfsTer?
ENST00000388922.9:c.1144del MANE Select	ENSP00000373574.4:p.Asp382ThrfsTer?
ENST00000388922.8:c.1144del	ENSP00000373574.4:p.Asp382ThrfsTer?
ENST00000419526.6:c.622del	ENSP00000392492.2:p.Asp208ThrfsTer?
ENST00000547632.1:n.419del
ENST00000550683.5:c.1186del	ENSP00000447884.1:p.Asp396ThrfsTer?
ENST00000552678.1:c.149del
NM_000020.2:c.1144del , LRG_543t1:c.1144del	NP_000011.2:p.Asp382ThrfsTer?
NM_001077401.1:c.1144del	NP_001070869.1:p.Asp382ThrfsTer?
XM_005269235.2:c.1144del	XP_005269292.1:p.Asp382ThrfsTer?
XM_011539008.1:c.874del	XP_011537310.1:p.Asp292ThrfsTer?
XM_024449279.1:c.355del	XP_024305047.1:p.Asp119ThrfsTer?
NM_000020.3:c.1144del MANE Select	NP_000011.2:p.Asp382ThrfsTer?
NM_001077401.2:c.1144del	NP_001070869.1:p.Asp382ThrfsTer?