Canonical Allele Identifier: CA2618856461

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51913008-AGAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913011_51913013del , CM000674.2:g.51913011_51913013del	GRCh38
NC_000012.11:g.52306795_52306797del , CM000674.1:g.52306795_52306797del	GRCh37
NC_000012.10:g.50593062_50593064del	NCBI36
NG_009549.1:g.10594_10596del , LRG_543:g.10594_10596del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.104-88_104-86del	ENSP00000446724.2:n.104-88_104-86del
ENST00000551576.6:c.62-88_62-86del	ENSP00000455848.2:n.62-88_62-86del
ENST00000552678.2:c.62-88_62-86del	ENSP00000457394.2:n.62-88_62-86del
ENST00000388922.9:c.62-88_62-86del MANE Select	ENSP00000373574.4:n.62-88_62-86del
ENST00000388922.8:c.62-88_62-86del	ENSP00000373574.4:n.62-88_62-86del
ENST00000419526.6:c.103+476_103+478del	ENSP00000392492.2:n.103+476_103+478del
ENST00000547400.5:c.104-88_104-86del	ENSP00000446724.1:n.104-88_104-86del
ENST00000550683.5:c.104-88_104-86del	ENSP00000447884.1:n.104-88_104-86del
ENST00000551576.5:c.62-88_62-86del	ENSP00000455848.1:n.62-88_62-86del
NM_000020.2:c.62-88_62-86del , LRG_543t1:c.62-88_62-86del	NP_000011.2:n.62-88_62-86del
NM_001077401.1:c.62-88_62-86del	NP_001070869.1:n.62-88_62-86del
XM_005269235.2:c.62-88_62-86del	XP_005269292.1:n.62-88_62-86del
XM_011539008.1:c.104-88_104-86del	XP_011537310.1:n.104-88_104-86del
NM_000020.3:c.62-88_62-86del MANE Select	NP_000011.2:n.62-88_62-86del
NM_001077401.2:c.62-88_62-86del	NP_001070869.1:n.62-88_62-86del