Canonical Allele Identifier: CA2618861054

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51920939-T-TGGGGGGCGCGGGGGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920946_51920947insGCGGGGGGGGGGGGGGGGGGGGGGC , CM000674.2:g.51920946_51920947insGCGGGGGGGGGGGGGGGGGGGGGGC	GRCh38
NC_000012.11:g.52314730_52314731insGCGGGGGGGGGGGGGGGGGGGGGGC , CM000674.1:g.52314730_52314731insGCGGGGGGGGGGGGGGGGGGGGGGC	GRCh37
NC_000012.10:g.50600997_50600998insGCGGGGGGGGGGGGGGGGGGGGGGC	NCBI36
NG_009549.1:g.18529_18530insGCGGGGGGGGGGGGGGGGGGGGGGC , LRG_543:g.18529_18530insGCGGGGGGGGGGGGGGGGGGGGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC	ENSP00000455848.2:n.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC
ENST00000388922.9:c.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC MANE Select	ENSP00000373574.4:n.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC
ENST00000388922.8:c.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC	ENSP00000373574.4:n.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC
ENST00000419526.6:c.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC	ENSP00000392492.2:n.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC
ENST00000550683.5:c.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC	ENSP00000447884.1:n.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC
NM_000020.2:c.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC , LRG_543t1:c.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC	NP_000011.2:n.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC
NM_001077401.1:c.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC	NP_001070869.1:n.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC
XM_005269235.2:c.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC	XP_005269292.1:n.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC
XM_011539008.1:c.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC	XP_011537310.1:n.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC
XM_024449279.1:c.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC	XP_024305047.1:n.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC
NM_000020.3:c.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC MANE Select	NP_000011.2:n.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC
NM_001077401.2:c.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC	NP_001070869.1:n.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC