Canonical Allele Identifier: CA2036266434

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912654_51912659delinsCTGGAG , CM000674.2:g.51912654_51912659delinsCTGGAG	GRCh38
NC_000012.11:g.52306438_52306443delinsCTGGAG , CM000674.1:g.52306438_52306443delinsCTGGAG	GRCh37
NC_000012.10:g.50592705_50592710delinsCTGGAG	NCBI36
NG_009549.1:g.10237_10242delinsCTGGAG , LRG_543:g.10237_10242delinsCTGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.103+119_103+124delinsCTGGAG	ENSP00000446724.2:n.103+119_103+124delinsCTGGAG
ENST00000551576.6:c.61+119_61+124delinsCTGGAG	ENSP00000455848.2:n.61+119_61+124delinsCTGGAG
ENST00000552678.2:c.61+119_61+124delinsCTGGAG	ENSP00000457394.2:n.61+119_61+124delinsCTGGAG
ENST00000388922.9:c.61+119_61+124delinsCTGGAG MANE Select	ENSP00000373574.4:n.61+119_61+124delinsCTGGAG
ENST00000388922.8:c.61+119_61+124delinsCTGGAG	ENSP00000373574.4:n.61+119_61+124delinsCTGGAG
ENST00000419526.6:c.103+119_103+124delinsCTGGAG	ENSP00000392492.2:n.103+119_103+124delinsCTGGAG
ENST00000547400.5:c.103+119_103+124delinsCTGGAG	ENSP00000446724.1:n.103+119_103+124delinsCTGGAG
ENST00000550683.5:c.103+119_103+124delinsCTGGAG	ENSP00000447884.1:n.103+119_103+124delinsCTGGAG
ENST00000551576.5:c.61+119_61+124delinsCTGGAG	ENSP00000455848.1:n.61+119_61+124delinsCTGGAG
NM_000020.2:c.61+119_61+124delinsCTGGAG , LRG_543t1:c.61+119_61+124delinsCTGGAG	NP_000011.2:n.61+119_61+124delinsCTGGAG
NM_001077401.1:c.61+119_61+124delinsCTGGAG	NP_001070869.1:n.61+119_61+124delinsCTGGAG
XM_005269235.2:c.61+119_61+124delinsCTGGAG	XP_005269292.1:n.61+119_61+124delinsCTGGAG
XM_011539008.1:c.103+119_103+124delinsCTGGAG	XP_011537310.1:n.103+119_103+124delinsCTGGAG
NM_000020.3:c.61+119_61+124delinsCTGGAG MANE Select	NP_000011.2:n.61+119_61+124delinsCTGGAG
NM_001077401.2:c.61+119_61+124delinsCTGGAG	NP_001070869.1:n.61+119_61+124delinsCTGGAG