Canonical Allele Identifier: CA2618861055

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51920939-T-TGGGGGGCAGTGGATGGTGCCCTAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920962_51920963insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGTGGATGGTGCCCTA , CM000674.2:g.51920962_51920963insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGTGGATGGTGCCCTA	GRCh38
NC_000012.11:g.52314746_52314747insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGTGGATGGTGCCCTA , CM000674.1:g.52314746_52314747insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGTGGATGGTGCCCTA	GRCh37
NC_000012.10:g.50601013_50601014insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGTGGATGGTGCCCTA	NCBI36
NG_009549.1:g.18545_18546insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGTGGATGGTGCCCTA , LRG_543:g.18545_18546insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGTGGATGGTGCCCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGTGGATGGTGCCCTA	ENSP00000455848.2:n.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
ENST00000388922.9:c.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGTGGATGGTGCCCTA MANE Select	ENSP00000373574.4:n.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
ENST00000388922.8:c.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGTGGATGGTGCCCTA	ENSP00000373574.4:n.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
ENST00000419526.6:c.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGTGGATGGTGCCCTA	ENSP00000392492.2:n.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
ENST00000550683.5:c.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGTGGATGGTGCCCTA	ENSP00000447884.1:n.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
NM_000020.2:c.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGTGGATGGTGCCCTA , LRG_543t1:c.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGTGGATGGTGCCCTA	NP_000011.2:n.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
NM_001077401.1:c.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGTGGATGGTGCCCTA	NP_001070869.1:n.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
XM_005269235.2:c.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGTGGATGGTGCCCTA	XP_005269292.1:n.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
XM_011539008.1:c.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGTGGATGGTGCCCTA	XP_011537310.1:n.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
XM_024449279.1:c.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGTGGATGGTGCCCTA	XP_024305047.1:n.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
NM_000020.3:c.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGTGGATGGTGCCCTA MANE Select	NP_000011.2:n.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
NM_001077401.2:c.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGTGGATGGTGCCCTA	NP_001070869.1:n.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...