Canonical Allele Identifier: CA2596578465

Gene: ACVRL1

Linked Data

• gnomAD v3: 12-51914178-G-GGCTTTGCCCCCCTGCAC
• gnomAD v4: 12-51914178-G-GGCTTTGCCCCCCTGCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914178_51914179insGCTTTGCCCCCCTGCAC , CM000674.2:g.51914178_51914179insGCTTTGCCCCCCTGCAC	GRCh38
NC_000012.11:g.52307962_52307963insGCTTTGCCCCCCTGCAC , CM000674.1:g.52307962_52307963insGCTTTGCCCCCCTGCAC	GRCh37
NC_000012.10:g.50594229_50594230insGCTTTGCCCCCCTGCAC	NCBI36
NG_009549.1:g.11761_11762insGCTTTGCCCCCCTGCAC , LRG_543:g.11761_11762insGCTTTGCCCCCCTGCAC

Transcript Alleles

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