Canonical Allele Identifier: CA1139662704

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 982445
• ClinVar RCV Id: RCV001262024
• dbSNP Id: rs1940813766

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915493del , CM000674.2:g.51915493del	GRCh38
NC_000012.11:g.52309277del , CM000674.1:g.52309277del	GRCh37
NC_000012.10:g.50595544del	NCBI36
NG_009549.1:g.13076del , LRG_543:g.13076del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.771del	ENSP00000446724.2:p.Asp258ThrfsTer6
ENST00000551576.6:c.1041del	ENSP00000455848.2:p.Asp348ThrfsTer6
ENST00000552678.2:c.1041del	ENSP00000457394.2:p.Asp348ThrfsTer6
ENST00000388922.9:c.1041del MANE Select	ENSP00000373574.4:p.Asp348ThrfsTer6
ENST00000388922.8:c.1041del	ENSP00000373574.4:p.Asp348ThrfsTer6
ENST00000419526.6:c.519del	ENSP00000392492.2:p.Asp174ThrfsTer6
ENST00000550683.5:c.1083del	ENSP00000447884.1:p.Asp362ThrfsTer6
ENST00000552678.1:c.46del
NM_000020.2:c.1041del , LRG_543t1:c.1041del	NP_000011.2:p.Asp348ThrfsTer6
NM_001077401.1:c.1041del	NP_001070869.1:p.Asp348ThrfsTer6
XM_005269235.2:c.1041del	XP_005269292.1:p.Asp348ThrfsTer6
XM_011539008.1:c.771del	XP_011537310.1:p.Asp258ThrfsTer6
XM_024449279.1:c.252del	XP_024305047.1:p.Asp85ThrfsTer6
NM_000020.3:c.1041del MANE Select	NP_000011.2:p.Asp348ThrfsTer6
NM_001077401.2:c.1041del	NP_001070869.1:p.Asp348ThrfsTer6