Canonical Allele Identifier: CA2695216665

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913173_51913174delinsCT , CM000674.2:g.51913173_51913174delinsCT	GRCh38
NC_000012.11:g.52306957_52306958delinsCT , CM000674.1:g.52306957_52306958delinsCT	GRCh37
NC_000012.10:g.50593224_50593225delinsCT	NCBI36
NG_009549.1:g.10756_10757delinsCT , LRG_543:g.10756_10757delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.178_179delinsCT	ENSP00000446724.2:p.Cys60Leu
ENST00000551576.6:c.136_137delinsCT	ENSP00000455848.2:p.Cys46Leu
ENST00000552678.2:c.136_137delinsCT	ENSP00000457394.2:p.Cys46Leu
ENST00000388922.9:c.136_137delinsCT MANE Select	ENSP00000373574.4:p.Cys46Leu
ENST00000388922.8:c.136_137delinsCT	ENSP00000373574.4:p.Cys46Leu
ENST00000419526.6:c.103+638_103+639delinsCT	ENSP00000392492.2:n.103+638_103+639delinsCT
ENST00000547400.5:c.178_179delinsCT	ENSP00000446724.1:p.Cys60Leu
ENST00000550683.5:c.178_179delinsCT	ENSP00000447884.1:p.Cys60Leu
ENST00000551576.5:c.136_137delinsCT	ENSP00000455848.1:p.Cys46Leu
NM_000020.2:c.136_137delinsCT , LRG_543t1:c.136_137delinsCT	NP_000011.2:p.Cys46Leu
NM_001077401.1:c.136_137delinsCT	NP_001070869.1:p.Cys46Leu
XM_005269235.2:c.136_137delinsCT	XP_005269292.1:p.Cys46Leu
XM_011539008.1:c.178_179delinsCT	XP_011537310.1:p.Cys60Leu
NM_000020.3:c.136_137delinsCT MANE Select	NP_000011.2:p.Cys46Leu
NM_001077401.2:c.136_137delinsCT	NP_001070869.1:p.Cys46Leu