Canonical Allele Identifier: CA2618860423

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51920923-C-CGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920923_51920924insGGGGGGGG , CM000674.2:g.51920923_51920924insGGGGGGGG	GRCh38
NC_000012.11:g.52314707_52314708insGGGGGGGG , CM000674.1:g.52314707_52314708insGGGGGGGG	GRCh37
NC_000012.10:g.50600974_50600975insGGGGGGGG	NCBI36
NG_009549.1:g.18506_18507insGGGGGGGG , LRG_543:g.18506_18507insGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*30_*31insGGGGGGGG	ENSP00000455848.2:n.*30_*31insGGGGGGGG
ENST00000388922.9:c.*30_*31insGGGGGGGG MANE Select	ENSP00000373574.4:n.*30_*31insGGGGGGGG
ENST00000388922.8:c.*30_*31insGGGGGGGG	ENSP00000373574.4:n.*30_*31insGGGGGGGG
ENST00000419526.6:c.*30_*31insGGGGGGGG	ENSP00000392492.2:n.*30_*31insGGGGGGGG
ENST00000550683.5:c.*30_*31insGGGGGGGG	ENSP00000447884.1:n.*30_*31insGGGGGGGG
NM_000020.2:c.*30_*31insGGGGGGGG , LRG_543t1:c.*30_*31insGGGGGGGG	NP_000011.2:n.*30_*31insGGGGGGGG
NM_001077401.1:c.*30_*31insGGGGGGGG	NP_001070869.1:n.*30_*31insGGGGGGGG
XM_005269235.2:c.*30_*31insGGGGGGGG	XP_005269292.1:n.*30_*31insGGGGGGGG
XM_011539008.1:c.*30_*31insGGGGGGGG	XP_011537310.1:n.*30_*31insGGGGGGGG
XM_024449279.1:c.*30_*31insGGGGGGGG	XP_024305047.1:n.*30_*31insGGGGGGGG
NM_000020.3:c.*30_*31insGGGGGGGG MANE Select	NP_000011.2:n.*30_*31insGGGGGGGG
NM_001077401.2:c.*30_*31insGGGGGGGG	NP_001070869.1:n.*30_*31insGGGGGGGG