Canonical Allele Identifier: CA947669133

Gene: ACVRL1

Linked Data

• gnomAD v3: 12-51920939-T-TGGGGGGGGGGGG
• gnomAD v4: 12-51920939-T-TGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920945_51920946insGGGGGGGGGGGG , CM000674.2:g.51920945_51920946insGGGGGGGGGGGG	GRCh38
NC_000012.11:g.52314729_52314730insGGGGGGGGGGGG , CM000674.1:g.52314729_52314730insGGGGGGGGGGGG	GRCh37
NC_000012.10:g.50600996_50600997insGGGGGGGGGGGG	NCBI36
NG_009549.1:g.18528_18529insGGGGGGGGGGGG , LRG_543:g.18528_18529insGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*52_*53insGGGGGGGGGGGG	ENSP00000455848.2:n.*52_*53insGGGGGGGGGGGG
ENST00000388922.9:c.*52_*53insGGGGGGGGGGGG MANE Select	ENSP00000373574.4:n.*52_*53insGGGGGGGGGGGG
ENST00000388922.8:c.*52_*53insGGGGGGGGGGGG	ENSP00000373574.4:n.*52_*53insGGGGGGGGGGGG
ENST00000419526.6:c.*52_*53insGGGGGGGGGGGG	ENSP00000392492.2:n.*52_*53insGGGGGGGGGGGG
ENST00000550683.5:c.*52_*53insGGGGGGGGGGGG	ENSP00000447884.1:n.*52_*53insGGGGGGGGGGGG
NM_000020.2:c.*52_*53insGGGGGGGGGGGG , LRG_543t1:c.*52_*53insGGGGGGGGGGGG	NP_000011.2:n.*52_*53insGGGGGGGGGGGG
NM_001077401.1:c.*52_*53insGGGGGGGGGGGG	NP_001070869.1:n.*52_*53insGGGGGGGGGGGG
XM_005269235.2:c.*52_*53insGGGGGGGGGGGG	XP_005269292.1:n.*52_*53insGGGGGGGGGGGG
XM_011539008.1:c.*52_*53insGGGGGGGGGGGG	XP_011537310.1:n.*52_*53insGGGGGGGGGGGG
XM_024449279.1:c.*52_*53insGGGGGGGGGGGG	XP_024305047.1:n.*52_*53insGGGGGGGGGGGG
NM_000020.3:c.*52_*53insGGGGGGGGGGGG MANE Select	NP_000011.2:n.*52_*53insGGGGGGGGGGGG
NM_001077401.2:c.*52_*53insGGGGGGGGGGGG	NP_001070869.1:n.*52_*53insGGGGGGGGGGGG