Canonical Allele Identifier: CA2618856342

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51912948-GAAGGATGACT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912949_51912958del , CM000674.2:g.51912949_51912958del	GRCh38
NC_000012.11:g.52306733_52306742del , CM000674.1:g.52306733_52306742del	GRCh37
NC_000012.10:g.50593000_50593009del	NCBI36
NG_009549.1:g.10532_10541del , LRG_543:g.10532_10541del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.104-150_104-141del	ENSP00000446724.2:n.104-150_104-141del
ENST00000551576.6:c.62-150_62-141del	ENSP00000455848.2:n.62-150_62-141del
ENST00000552678.2:c.62-150_62-141del	ENSP00000457394.2:n.62-150_62-141del
ENST00000388922.9:c.62-150_62-141del MANE Select	ENSP00000373574.4:n.62-150_62-141del
ENST00000388922.8:c.62-150_62-141del	ENSP00000373574.4:n.62-150_62-141del
ENST00000419526.6:c.103+414_103+423del	ENSP00000392492.2:n.103+414_103+423del
ENST00000547400.5:c.104-150_104-141del	ENSP00000446724.1:n.104-150_104-141del
ENST00000550683.5:c.104-150_104-141del	ENSP00000447884.1:n.104-150_104-141del
ENST00000551576.5:c.62-150_62-141del	ENSP00000455848.1:n.62-150_62-141del
NM_000020.2:c.62-150_62-141del , LRG_543t1:c.62-150_62-141del	NP_000011.2:n.62-150_62-141del
NM_001077401.1:c.62-150_62-141del	NP_001070869.1:n.62-150_62-141del
XM_005269235.2:c.62-150_62-141del	XP_005269292.1:n.62-150_62-141del
XM_011539008.1:c.104-150_104-141del	XP_011537310.1:n.104-150_104-141del
NM_000020.3:c.62-150_62-141del MANE Select	NP_000011.2:n.62-150_62-141del
NM_001077401.2:c.62-150_62-141del	NP_001070869.1:n.62-150_62-141del