Canonical Allele Identifier: CA2036269467

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915337_51915338delinsGC , CM000674.2:g.51915337_51915338delinsGC	GRCh38
NC_000012.11:g.52309121_52309122delinsGC , CM000674.1:g.52309121_52309122delinsGC	GRCh37
NC_000012.10:g.50595388_50595389delinsGC	NCBI36
NG_009549.1:g.12920_12921delinsGC , LRG_543:g.12920_12921delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.615_616delinsGC	ENSP00000446724.2:p.Glu205=
ENST00000551576.6:c.885_886delinsGC	ENSP00000455848.2:p.Glu295=
ENST00000552678.2:c.885_886delinsGC	ENSP00000457394.2:p.Glu295=
ENST00000388922.9:c.885_886delinsGC MANE Select	ENSP00000373574.4:p.Glu295=
ENST00000388922.8:c.885_886delinsGC	ENSP00000373574.4:p.Glu295=
ENST00000419526.6:c.363_364delinsGC	ENSP00000392492.2:p.Glu121=
ENST00000550683.5:c.927_928delinsGC	ENSP00000447884.1:p.Glu309=
NM_000020.2:c.885_886delinsGC , LRG_543t1:c.885_886delinsGC	NP_000011.2:p.Glu295=
NM_001077401.1:c.885_886delinsGC	NP_001070869.1:p.Glu295=
XM_005269235.2:c.885_886delinsGC	XP_005269292.1:p.Glu295=
XM_011539008.1:c.615_616delinsGC	XP_011537310.1:p.Glu205=
XM_024449279.1:c.96_97delinsGC	XP_024305047.1:p.Glu32=
NM_000020.3:c.885_886delinsGC MANE Select	NP_000011.2:p.Glu295=
NM_001077401.2:c.885_886delinsGC	NP_001070869.1:p.Glu295=