Canonical Allele Identifier: CA2695216747

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915393_51915403del , CM000674.2:g.51915393_51915403del	GRCh38
NC_000012.11:g.52309177_52309187del , CM000674.1:g.52309177_52309187del	GRCh37
NC_000012.10:g.50595444_50595454del	NCBI36
NG_009549.1:g.12976_12986del , LRG_543:g.12976_12986del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.671_681del	ENSP00000446724.2:p.His224LeufsTer?
ENST00000551576.6:c.941_951del	ENSP00000455848.2:p.His314LeufsTer?
ENST00000552678.2:c.941_951del	ENSP00000457394.2:p.His314LeufsTer?
ENST00000388922.9:c.941_951del MANE Select	ENSP00000373574.4:p.His314LeufsTer?
ENST00000388922.8:c.941_951del	ENSP00000373574.4:p.His314LeufsTer?
ENST00000419526.6:c.419_429del	ENSP00000392492.2:p.His140LeufsTer?
ENST00000550683.5:c.983_993del	ENSP00000447884.1:p.His328LeufsTer?
NM_000020.2:c.941_951del , LRG_543t1:c.941_951del	NP_000011.2:p.His314LeufsTer?
NM_001077401.1:c.941_951del	NP_001070869.1:p.His314LeufsTer?
XM_005269235.2:c.941_951del	XP_005269292.1:p.His314LeufsTer?
XM_011539008.1:c.671_681del	XP_011537310.1:p.His224LeufsTer?
XM_024449279.1:c.152_162del	XP_024305047.1:p.His51LeufsTer?
NM_000020.3:c.941_951del MANE Select	NP_000011.2:p.His314LeufsTer?
NM_001077401.2:c.941_951del	NP_001070869.1:p.His314LeufsTer?