Canonical Allele Identifier: CA2695216663

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913137_51913152del , CM000674.2:g.51913137_51913152del	GRCh38
NC_000012.11:g.52306921_52306936del , CM000674.1:g.52306921_52306936del	GRCh37
NC_000012.10:g.50593188_50593203del	NCBI36
NG_009549.1:g.10720_10735del , LRG_543:g.10720_10735del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.142_157del	ENSP00000446724.2:p.Cys48HisfsTer15
ENST00000551576.6:c.100_115del	ENSP00000455848.2:p.Cys34HisfsTer15
ENST00000552678.2:c.100_115del	ENSP00000457394.2:p.Cys34HisfsTer15
ENST00000388922.9:c.100_115del MANE Select	ENSP00000373574.4:p.Cys34HisfsTer15
ENST00000388922.8:c.100_115del	ENSP00000373574.4:p.Cys34HisfsTer15
ENST00000419526.6:c.103+602_103+617del	ENSP00000392492.2:n.103+602_103+617del
ENST00000547400.5:c.142_157del	ENSP00000446724.1:p.Cys48HisfsTer15
ENST00000550683.5:c.142_157del	ENSP00000447884.1:p.Cys48HisfsTer15
ENST00000551576.5:c.100_115del	ENSP00000455848.1:p.Cys34HisfsTer15
NM_000020.2:c.100_115del , LRG_543t1:c.100_115del	NP_000011.2:p.Cys34HisfsTer15
NM_001077401.1:c.100_115del	NP_001070869.1:p.Cys34HisfsTer15
XM_005269235.2:c.100_115del	XP_005269292.1:p.Cys34HisfsTer15
XM_011539008.1:c.142_157del	XP_011537310.1:p.Cys48HisfsTer15
NM_000020.3:c.100_115del MANE Select	NP_000011.2:p.Cys34HisfsTer15
NM_001077401.2:c.100_115del	NP_001070869.1:p.Cys34HisfsTer15