Canonical Allele Identifier: CA2036242095

Gene: ACVRL1

Linked Data

• dbSNP Id: rs761647766
• gnomAD v4: 12-51920931-T-TGGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920938_51920939insGGGGGGGGGGGGG , CM000674.2:g.51920938_51920939insGGGGGGGGGGGGG	GRCh38
NC_000012.11:g.52314722_52314723insGGGGGGGGGGGGG , CM000674.1:g.52314722_52314723insGGGGGGGGGGGGG	GRCh37
NC_000012.10:g.50600989_50600990insGGGGGGGGGGGGG	NCBI36
NG_009549.1:g.18521_18522insGGGGGGGGGGGGG , LRG_543:g.18521_18522insGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*45_*46insGGGGGGGGGGGGG	ENSP00000455848.2:n.*45_*46insGGGGGGGGGGGGG
ENST00000388922.9:c.*45_*46insGGGGGGGGGGGGG MANE Select	ENSP00000373574.4:n.*45_*46insGGGGGGGGGGGGG
ENST00000388922.8:c.*45_*46insGGGGGGGGGGGGG	ENSP00000373574.4:n.*45_*46insGGGGGGGGGGGGG
ENST00000419526.6:c.*45_*46insGGGGGGGGGGGGG	ENSP00000392492.2:n.*45_*46insGGGGGGGGGGGGG
ENST00000550683.5:c.*45_*46insGGGGGGGGGGGGG	ENSP00000447884.1:n.*45_*46insGGGGGGGGGGGGG
NM_000020.2:c.*45_*46insGGGGGGGGGGGGG , LRG_543t1:c.*45_*46insGGGGGGGGGGGGG	NP_000011.2:n.*45_*46insGGGGGGGGGGGGG
NM_001077401.1:c.*45_*46insGGGGGGGGGGGGG	NP_001070869.1:n.*45_*46insGGGGGGGGGGGGG
XM_005269235.2:c.*45_*46insGGGGGGGGGGGGG	XP_005269292.1:n.*45_*46insGGGGGGGGGGGGG
XM_011539008.1:c.*45_*46insGGGGGGGGGGGGG	XP_011537310.1:n.*45_*46insGGGGGGGGGGGGG
XM_024449279.1:c.*45_*46insGGGGGGGGGGGGG	XP_024305047.1:n.*45_*46insGGGGGGGGGGGGG
NM_000020.3:c.*45_*46insGGGGGGGGGGGGG MANE Select	NP_000011.2:n.*45_*46insGGGGGGGGGGGGG
NM_001077401.2:c.*45_*46insGGGGGGGGGGGGG	NP_001070869.1:n.*45_*46insGGGGGGGGGGGGG