Canonical Allele Identifier: CA2036266075

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912381_51912383delinsCTG , CM000674.2:g.51912381_51912383delinsCTG	GRCh38
NC_000012.11:g.52306165_52306167delinsCTG , CM000674.1:g.52306165_52306167delinsCTG	GRCh37
NC_000012.10:g.50592432_50592434delinsCTG	NCBI36
NG_009549.1:g.9964_9966delinsCTG , LRG_543:g.9964_9966delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.-52_-50delinsCTG	ENSP00000446724.2:n.-52_-50delinsCTG
ENST00000551576.6:c.-5-89_-5-87delinsCTG	ENSP00000455848.2:n.-5-89_-5-87delinsCTG
ENST00000552678.2:c.-5-89_-5-87delinsCTG	ENSP00000457394.2:n.-5-89_-5-87delinsCTG
ENST00000388922.9:c.-5-89_-5-87delinsCTG MANE Select	ENSP00000373574.4:n.-5-89_-5-87delinsCTG
ENST00000388922.8:c.-5-89_-5-87delinsCTG	ENSP00000373574.4:n.-5-89_-5-87delinsCTG
ENST00000419526.6:c.-52_-50delinsCTG	ENSP00000392492.2:n.-52_-50delinsCTG
ENST00000547400.5:c.-52_-50delinsCTG	ENSP00000446724.1:n.-52_-50delinsCTG
ENST00000550683.5:c.-52_-50delinsCTG	ENSP00000447884.1:n.-52_-50delinsCTG
ENST00000551576.5:c.-5-89_-5-87delinsCTG	ENSP00000455848.1:n.-5-89_-5-87delinsCTG
NM_000020.2:c.-5-89_-5-87delinsCTG , LRG_543t1:c.-5-89_-5-87delinsCTG	NP_000011.2:n.-5-89_-5-87delinsCTG
NM_001077401.1:c.-94_-92delinsCTG	NP_001070869.1:n.-94_-92delinsCTG
XM_005269235.2:c.-5-89_-5-87delinsCTG	XP_005269292.1:n.-5-89_-5-87delinsCTG
XM_011539008.1:c.-52_-50delinsCTG	XP_011537310.1:n.-52_-50delinsCTG
NM_000020.3:c.-5-89_-5-87delinsCTG MANE Select	NP_000011.2:n.-5-89_-5-87delinsCTG