Canonical Allele Identifier: CA6573196

Gene: ACVRL1

Linked Data

• dbSNP Id: rs764982994
• ExAC: 12:52314723 T / TGGGGGGGGG
• gnomAD v2: 12-52314723-T-TGGGGGGGGG
• gnomAD v3: 12-51920939-T-TGGGGGGGGG
• gnomAD v4: 12-51920939-T-TGGGGGGGGG
• MyVariant Identifiers: chr12:g.52314723_52314724insGGGGGGGGG (hg19) ; chr12:g.51920939_51920940insGGGGGGGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920945_51920946insGGGGGGGGG , CM000674.2:g.51920945_51920946insGGGGGGGGG	GRCh38
NC_000012.11:g.52314729_52314730insGGGGGGGGG , CM000674.1:g.52314729_52314730insGGGGGGGGG	GRCh37
NC_000012.10:g.50600996_50600997insGGGGGGGGG	NCBI36
NG_009549.1:g.18528_18529insGGGGGGGGG , LRG_543:g.18528_18529insGGGGGGGGG

Transcript Alleles

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