Canonical Allele Identifier: CA2561532366

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914178_51914179insGC , CM000674.2:g.51914178_51914179insGC	GRCh38
NC_000012.11:g.52307962_52307963insGC , CM000674.1:g.52307962_52307963insGC	GRCh37
NC_000012.10:g.50594229_50594230insGC	NCBI36
NG_009549.1:g.11761_11762insGC , LRG_543:g.11761_11762insGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.356-261_356-260insGC	ENSP00000446724.2:n.356-261_356-260insGC
ENST00000551576.6:c.625+105_625+106insGC	ENSP00000455848.2:n.625+105_625+106insGC
ENST00000552678.2:c.625+105_625+106insGC	ENSP00000457394.2:n.625+105_625+106insGC
ENST00000388922.9:c.625+105_625+106insGC MANE Select	ENSP00000373574.4:n.625+105_625+106insGC
ENST00000388922.8:c.625+105_625+106insGC	ENSP00000373574.4:n.625+105_625+106insGC
ENST00000419526.6:c.104-261_104-260insGC	ENSP00000392492.2:n.104-261_104-260insGC
ENST00000547400.5:c.356-261_356-260insGC	ENSP00000446724.1:n.356-261_356-260insGC
ENST00000550683.5:c.667+105_667+106insGC	ENSP00000447884.1:n.667+105_667+106insGC
NM_000020.2:c.625+105_625+106insGC , LRG_543t1:c.625+105_625+106insGC	NP_000011.2:n.625+105_625+106insGC
NM_001077401.1:c.625+105_625+106insGC	NP_001070869.1:n.625+105_625+106insGC
XM_005269235.2:c.625+105_625+106insGC	XP_005269292.1:n.625+105_625+106insGC
XM_011539008.1:c.356-261_356-260insGC	XP_011537310.1:n.356-261_356-260insGC
XM_024449279.1:c.-164-261_-164-260insGC	XP_024305047.1:n.-164-261_-164-260insGC
NM_000020.3:c.625+105_625+106insGC MANE Select	NP_000011.2:n.625+105_625+106insGC
NM_001077401.2:c.625+105_625+106insGC	NP_001070869.1:n.625+105_625+106insGC