Canonical Allele Identifier: CA2618860476

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51920930-C-CGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920930_51920931insGGGGGGGG , CM000674.2:g.51920930_51920931insGGGGGGGG	GRCh38
NC_000012.11:g.52314714_52314715insGGGGGGGG , CM000674.1:g.52314714_52314715insGGGGGGGG	GRCh37
NC_000012.10:g.50600981_50600982insGGGGGGGG	NCBI36
NG_009549.1:g.18513_18514insGGGGGGGG , LRG_543:g.18513_18514insGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*37_*38insGGGGGGGG	ENSP00000455848.2:n.*37_*38insGGGGGGGG
ENST00000388922.9:c.*37_*38insGGGGGGGG MANE Select	ENSP00000373574.4:n.*37_*38insGGGGGGGG
ENST00000388922.8:c.*37_*38insGGGGGGGG	ENSP00000373574.4:n.*37_*38insGGGGGGGG
ENST00000419526.6:c.*37_*38insGGGGGGGG	ENSP00000392492.2:n.*37_*38insGGGGGGGG
ENST00000550683.5:c.*37_*38insGGGGGGGG	ENSP00000447884.1:n.*37_*38insGGGGGGGG
NM_000020.2:c.*37_*38insGGGGGGGG , LRG_543t1:c.*37_*38insGGGGGGGG	NP_000011.2:n.*37_*38insGGGGGGGG
NM_001077401.1:c.*37_*38insGGGGGGGG	NP_001070869.1:n.*37_*38insGGGGGGGG
XM_005269235.2:c.*37_*38insGGGGGGGG	XP_005269292.1:n.*37_*38insGGGGGGGG
XM_011539008.1:c.*37_*38insGGGGGGGG	XP_011537310.1:n.*37_*38insGGGGGGGG
XM_024449279.1:c.*37_*38insGGGGGGGG	XP_024305047.1:n.*37_*38insGGGGGGGG
NM_000020.3:c.*37_*38insGGGGGGGG MANE Select	NP_000011.2:n.*37_*38insGGGGGGGG
NM_001077401.2:c.*37_*38insGGGGGGGG	NP_001070869.1:n.*37_*38insGGGGGGGG