Canonical Allele Identifier: CA2795983819

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920920_51920921insGGAGGGG , CM000674.2:g.51920920_51920921insGGAGGGG	GRCh38
NC_000012.11:g.52314704_52314705insGGAGGGG , CM000674.1:g.52314704_52314705insGGAGGGG	GRCh37
NC_000012.10:g.50600971_50600972insGGAGGGG	NCBI36
NG_009549.1:g.18503_18504insGGAGGGG , LRG_543:g.18503_18504insGGAGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*27_*28insGGAGGGG	ENSP00000455848.2:n.*27_*28insGGAGGGG
ENST00000388922.9:c.*27_*28insGGAGGGG MANE Select	ENSP00000373574.4:n.*27_*28insGGAGGGG
ENST00000388922.8:c.*27_*28insGGAGGGG	ENSP00000373574.4:n.*27_*28insGGAGGGG
ENST00000419526.6:c.*27_*28insGGAGGGG	ENSP00000392492.2:n.*27_*28insGGAGGGG
ENST00000550683.5:c.*27_*28insGGAGGGG	ENSP00000447884.1:n.*27_*28insGGAGGGG
NM_000020.2:c.*27_*28insGGAGGGG , LRG_543t1:c.*27_*28insGGAGGGG	NP_000011.2:n.*27_*28insGGAGGGG
NM_001077401.1:c.*27_*28insGGAGGGG	NP_001070869.1:n.*27_*28insGGAGGGG
XM_005269235.2:c.*27_*28insGGAGGGG	XP_005269292.1:n.*27_*28insGGAGGGG
XM_011539008.1:c.*27_*28insGGAGGGG	XP_011537310.1:n.*27_*28insGGAGGGG
XM_024449279.1:c.*27_*28insGGAGGGG	XP_024305047.1:n.*27_*28insGGAGGGG
NM_000020.3:c.*27_*28insGGAGGGG MANE Select	NP_000011.2:n.*27_*28insGGAGGGG
NM_001077401.2:c.*27_*28insGGAGGGG	NP_001070869.1:n.*27_*28insGGAGGGG