Canonical Allele Identifier: CA2618857812

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51913334-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913335del , CM000674.2:g.51913335del	GRCh38
NC_000012.11:g.52307119del , CM000674.1:g.52307119del	GRCh37
NC_000012.10:g.50593386del	NCBI36
NG_009549.1:g.10918del , LRG_543:g.10918del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.340del	ENSP00000446724.2:p.Ser114ProfsTer?
ENST00000551576.6:c.298del	ENSP00000455848.2:p.Ser100ProfsTer22
ENST00000552678.2:c.298del	ENSP00000457394.2:p.Ser100ProfsTer22
ENST00000388922.9:c.298del MANE Select	ENSP00000373574.4:p.Ser100ProfsTer22
ENST00000388922.8:c.298del	ENSP00000373574.4:p.Ser100ProfsTer22
ENST00000419526.6:c.103+800del	ENSP00000392492.2:n.103+800del
ENST00000547400.5:c.340del	ENSP00000446724.1:p.Ser114ProfsTer?
ENST00000550683.5:c.340del	ENSP00000447884.1:p.Ser114ProfsTer22
NM_000020.2:c.298del , LRG_543t1:c.298del	NP_000011.2:p.Ser100ProfsTer22
NM_001077401.1:c.298del	NP_001070869.1:p.Ser100ProfsTer22
XM_005269235.2:c.298del	XP_005269292.1:p.Ser100ProfsTer22
XM_011539008.1:c.340del	XP_011537310.1:p.Ser114ProfsTer?
XM_024449279.1:c.-392del	XP_024305047.1:n.-392del
NM_000020.3:c.298del MANE Select	NP_000011.2:p.Ser100ProfsTer22
NM_001077401.2:c.298del	NP_001070869.1:p.Ser100ProfsTer22