Canonical Allele Identifier: CA2575161492

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915299_51915303del , CM000674.2:g.51915299_51915303del	GRCh38
NC_000012.11:g.52309083_52309087del , CM000674.1:g.52309083_52309087del	GRCh37
NC_000012.10:g.50595350_50595354del	NCBI36
NG_009549.1:g.12882_12886del , LRG_543:g.12882_12886del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.577_581del	ENSP00000446724.2:p.Gly193ProfsTer?
ENST00000551576.6:c.847_851del	ENSP00000455848.2:p.Gly283ProfsTer?
ENST00000552678.2:c.847_851del	ENSP00000457394.2:p.Gly283ProfsTer?
ENST00000388922.9:c.847_851del MANE Select	ENSP00000373574.4:p.Gly283ProfsTer?
ENST00000388922.8:c.847_851del	ENSP00000373574.4:p.Gly283ProfsTer?
ENST00000419526.6:c.325_329del	ENSP00000392492.2:p.Gly109ProfsTer?
ENST00000550683.5:c.889_893del	ENSP00000447884.1:p.Gly297ProfsTer?
NM_000020.2:c.847_851del , LRG_543t1:c.847_851del	NP_000011.2:p.Gly283ProfsTer?
NM_001077401.1:c.847_851del	NP_001070869.1:p.Gly283ProfsTer?
XM_005269235.2:c.847_851del	XP_005269292.1:p.Gly283ProfsTer?
XM_011539008.1:c.577_581del	XP_011537310.1:p.Gly193ProfsTer?
XM_024449279.1:c.58_62del	XP_024305047.1:p.Gly20ProfsTer?
NM_000020.3:c.847_851del MANE Select	NP_000011.2:p.Gly283ProfsTer?
NM_001077401.2:c.847_851del	NP_001070869.1:p.Gly283ProfsTer?