Canonical Allele Identifier: CA2695216746

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915373_51915379dup , CM000674.2:g.51915373_51915379dup	GRCh38
NC_000012.11:g.52309157_52309163dup , CM000674.1:g.52309157_52309163dup	GRCh37
NC_000012.10:g.50595424_50595430dup	NCBI36
NG_009549.1:g.12956_12962dup , LRG_543:g.12956_12962dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.651_657dup	ENSP00000446724.2:p.Leu220MetfsTer?
ENST00000551576.6:c.921_927dup	ENSP00000455848.2:p.Leu310MetfsTer?
ENST00000552678.2:c.921_927dup	ENSP00000457394.2:p.Leu310MetfsTer?
ENST00000388922.9:c.921_927dup MANE Select	ENSP00000373574.4:p.Leu310MetfsTer?
ENST00000388922.8:c.921_927dup	ENSP00000373574.4:p.Leu310MetfsTer?
ENST00000419526.6:c.399_405dup	ENSP00000392492.2:p.Leu136MetfsTer?
ENST00000550683.5:c.963_969dup	ENSP00000447884.1:p.Leu324MetfsTer?
NM_000020.2:c.921_927dup , LRG_543t1:c.921_927dup	NP_000011.2:p.Leu310MetfsTer?
NM_001077401.1:c.921_927dup	NP_001070869.1:p.Leu310MetfsTer?
XM_005269235.2:c.921_927dup	XP_005269292.1:p.Leu310MetfsTer?
XM_011539008.1:c.651_657dup	XP_011537310.1:p.Leu220MetfsTer?
XM_024449279.1:c.132_138dup	XP_024305047.1:p.Leu47MetfsTer?
NM_000020.3:c.921_927dup MANE Select	NP_000011.2:p.Leu310MetfsTer?
NM_001077401.2:c.921_927dup	NP_001070869.1:p.Leu310MetfsTer?