Canonical Allele Identifier: CA2618861492

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51920942-G-GGGGGGGGGGGGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920945_51920946insGGGGGGGGCCGGG , CM000674.2:g.51920945_51920946insGGGGGGGGCCGGG	GRCh38
NC_000012.11:g.52314729_52314730insGGGGGGGGCCGGG , CM000674.1:g.52314729_52314730insGGGGGGGGCCGGG	GRCh37
NC_000012.10:g.50600996_50600997insGGGGGGGGCCGGG	NCBI36
NG_009549.1:g.18528_18529insGGGGGGGGCCGGG , LRG_543:g.18528_18529insGGGGGGGGCCGGG

Transcript Alleles

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