Canonical Allele Identifier: CA2524472596

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913096_51913097insTC , CM000674.2:g.51913096_51913097insTC	GRCh38
NC_000012.11:g.52306880_52306881insTC , CM000674.1:g.52306880_52306881insTC	GRCh37
NC_000012.10:g.50593147_50593148insTC	NCBI36
NG_009549.1:g.10679_10680insTC , LRG_543:g.10679_10680insTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.104-3_104-2insTC	ENSP00000446724.2:n.104-3_104-2insTC
ENST00000551576.6:c.62-3_62-2insTC	ENSP00000455848.2:n.62-3_62-2insTC
ENST00000552678.2:c.62-3_62-2insTC	ENSP00000457394.2:n.62-3_62-2insTC
ENST00000388922.9:c.62-3_62-2insTC MANE Select	ENSP00000373574.4:n.62-3_62-2insTC
ENST00000388922.8:c.62-3_62-2insTC	ENSP00000373574.4:n.62-3_62-2insTC
ENST00000419526.6:c.103+561_103+562insTC	ENSP00000392492.2:n.103+561_103+562insTC
ENST00000547400.5:c.104-3_104-2insTC	ENSP00000446724.1:n.104-3_104-2insTC
ENST00000550683.5:c.104-3_104-2insTC	ENSP00000447884.1:n.104-3_104-2insTC
ENST00000551576.5:c.62-3_62-2insTC	ENSP00000455848.1:n.62-3_62-2insTC
NM_000020.2:c.62-3_62-2insTC , LRG_543t1:c.62-3_62-2insTC	NP_000011.2:n.62-3_62-2insTC
NM_001077401.1:c.62-3_62-2insTC	NP_001070869.1:n.62-3_62-2insTC
XM_005269235.2:c.62-3_62-2insTC	XP_005269292.1:n.62-3_62-2insTC
XM_011539008.1:c.104-3_104-2insTC	XP_011537310.1:n.104-3_104-2insTC
NM_000020.3:c.62-3_62-2insTC MANE Select	NP_000011.2:n.62-3_62-2insTC
NM_001077401.2:c.62-3_62-2insTC	NP_001070869.1:n.62-3_62-2insTC