Canonical Allele Identifier: CA2695216723

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914065_51914073del , CM000674.2:g.51914065_51914073del	GRCh38
NC_000012.11:g.52307849_52307857del , CM000674.1:g.52307849_52307857del	GRCh37
NC_000012.10:g.50594116_50594124del	NCBI36
NG_009549.1:g.11648_11656del , LRG_543:g.11648_11656del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.356-374_356-366del	ENSP00000446724.2:n.356-374_356-366del
ENST00000551576.6:c.617_625del	ENSP00000455848.2:p.Glu206_Val208del
ENST00000552678.2:c.617_625del	ENSP00000457394.2:p.Glu206_Val208del
ENST00000388922.9:c.617_625del MANE Select	ENSP00000373574.4:p.Glu206_Val208del
ENST00000388922.8:c.617_625del	ENSP00000373574.4:p.Glu206_Val208del
ENST00000419526.6:c.104-374_104-366del	ENSP00000392492.2:n.104-374_104-366del
ENST00000547400.5:c.356-374_356-366del	ENSP00000446724.1:n.356-374_356-366del
ENST00000550683.5:c.659_667del	ENSP00000447884.1:p.Glu220_Val222del
NM_000020.2:c.617_625del , LRG_543t1:c.617_625del	NP_000011.2:p.Glu206_Val208del
NM_001077401.1:c.617_625del	NP_001070869.1:p.Glu206_Val208del
XM_005269235.2:c.617_625del	XP_005269292.1:p.Glu206_Val208del
XM_011539008.1:c.356-374_356-366del	XP_011537310.1:n.356-374_356-366del
XM_024449279.1:c.-165+295_-165+303del	XP_024305047.1:n.-165+295_-165+303del
NM_000020.3:c.617_625del MANE Select	NP_000011.2:p.Glu206_Val208del
NM_001077401.2:c.617_625del	NP_001070869.1:p.Glu206_Val208del