Canonical Allele Identifier: CA2618860414

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51920920-C-CGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920920_51920921insGGGGGGG , CM000674.2:g.51920920_51920921insGGGGGGG	GRCh38
NC_000012.11:g.52314704_52314705insGGGGGGG , CM000674.1:g.52314704_52314705insGGGGGGG	GRCh37
NC_000012.10:g.50600971_50600972insGGGGGGG	NCBI36
NG_009549.1:g.18503_18504insGGGGGGG , LRG_543:g.18503_18504insGGGGGGG

Transcript Alleles

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