Canonical Allele Identifier: CA2618860743

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51920931-T-TGGGGGGGGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920938_51920939insGTGGGGGGGG , CM000674.2:g.51920938_51920939insGTGGGGGGGG	GRCh38
NC_000012.11:g.52314722_52314723insGTGGGGGGGG , CM000674.1:g.52314722_52314723insGTGGGGGGGG	GRCh37
NC_000012.10:g.50600989_50600990insGTGGGGGGGG	NCBI36
NG_009549.1:g.18521_18522insGTGGGGGGGG , LRG_543:g.18521_18522insGTGGGGGGGG

Transcript Alleles

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