Canonical Allele Identifier: CA2740089968

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 3064793
• ClinVar RCV Id: RCV003989276
• ERepo: CA2740089968/MONDO:0010880/135

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914068del , CM000674.2:g.51914068del	GRCh38
NC_000012.11:g.52307852del , CM000674.1:g.52307852del	GRCh37
NC_000012.10:g.50594119del	NCBI36
NG_009549.1:g.11651del , LRG_543:g.11651del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.356-371del	ENSP00000446724.2:n.356-371del
ENST00000551576.6:c.620del	ENSP00000455848.2:p.Cys207LeufsTer?
ENST00000552678.2:c.620del	ENSP00000457394.2:p.Cys207LeufsTer?
ENST00000388922.9:c.620del MANE Select	ENSP00000373574.4:p.Cys207LeufsTer?
ENST00000388922.8:c.620del	ENSP00000373574.4:p.Cys207LeufsTer?
ENST00000419526.6:c.104-371del	ENSP00000392492.2:n.104-371del
ENST00000547400.5:c.356-371del	ENSP00000446724.1:n.356-371del
ENST00000550683.5:c.662del	ENSP00000447884.1:p.Cys221LeufsTer?
NM_000020.2:c.620del , LRG_543t1:c.620del	NP_000011.2:p.Cys207LeufsTer?
NM_001077401.1:c.620del	NP_001070869.1:p.Cys207LeufsTer?
XM_005269235.2:c.620del	XP_005269292.1:p.Cys207LeufsTer?
XM_011539008.1:c.356-371del	XP_011537310.1:n.356-371del
XM_024449279.1:c.-165+298del	XP_024305047.1:n.-165+298del
NM_000020.3:c.620del MANE Select	NP_000011.2:p.Cys207LeufsTer?
NM_001077401.2:c.620del	NP_001070869.1:p.Cys207LeufsTer?