Canonical Allele Identifier: CA2036269509

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915403_51915404delinsCT , CM000674.2:g.51915403_51915404delinsCT	GRCh38
NC_000012.11:g.52309187_52309188delinsCT , CM000674.1:g.52309187_52309188delinsCT	GRCh37
NC_000012.10:g.50595454_50595455delinsCT	NCBI36
NG_009549.1:g.12986_12987delinsCT , LRG_543:g.12986_12987delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.681_682delinsCT	ENSP00000446724.2:p.Ile227=
ENST00000551576.6:c.951_952delinsCT	ENSP00000455848.2:p.Ile317=
ENST00000552678.2:c.951_952delinsCT	ENSP00000457394.2:p.Ile317=
ENST00000388922.9:c.951_952delinsCT MANE Select	ENSP00000373574.4:p.Ile317=
ENST00000388922.8:c.951_952delinsCT	ENSP00000373574.4:p.Ile317=
ENST00000419526.6:c.429_430delinsCT	ENSP00000392492.2:p.Ile143=
ENST00000550683.5:c.993_994delinsCT	ENSP00000447884.1:p.Ile331=
NM_000020.2:c.951_952delinsCT , LRG_543t1:c.951_952delinsCT	NP_000011.2:p.Ile317=
NM_001077401.1:c.951_952delinsCT	NP_001070869.1:p.Ile317=
XM_005269235.2:c.951_952delinsCT	XP_005269292.1:p.Ile317=
XM_011539008.1:c.681_682delinsCT	XP_011537310.1:p.Ile227=
XM_024449279.1:c.162_163delinsCT	XP_024305047.1:p.Ile54=
NM_000020.3:c.951_952delinsCT MANE Select	NP_000011.2:p.Ile317=
NM_001077401.2:c.951_952delinsCT	NP_001070869.1:p.Ile317=