Canonical Allele Identifier: CA2695216662

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913127_51913139del , CM000674.2:g.51913127_51913139del	GRCh38
NC_000012.11:g.52306911_52306923del , CM000674.1:g.52306911_52306923del	GRCh37
NC_000012.10:g.50593178_50593190del	NCBI36
NG_009549.1:g.10710_10722del , LRG_543:g.10710_10722del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.132_144del	ENSP00000446724.2:p.Leu45ArgfsTer19
ENST00000551576.6:c.90_102del	ENSP00000455848.2:p.Leu31ArgfsTer19
ENST00000552678.2:c.90_102del	ENSP00000457394.2:p.Leu31ArgfsTer19
ENST00000388922.9:c.90_102del MANE Select	ENSP00000373574.4:p.Leu31ArgfsTer19
ENST00000388922.8:c.90_102del	ENSP00000373574.4:p.Leu31ArgfsTer19
ENST00000419526.6:c.103+592_103+604del	ENSP00000392492.2:n.103+592_103+604del
ENST00000547400.5:c.132_144del	ENSP00000446724.1:p.Leu45ArgfsTer19
ENST00000550683.5:c.132_144del	ENSP00000447884.1:p.Leu45ArgfsTer19
ENST00000551576.5:c.90_102del	ENSP00000455848.1:p.Leu31ArgfsTer19
NM_000020.2:c.90_102del , LRG_543t1:c.90_102del	NP_000011.2:p.Leu31ArgfsTer19
NM_001077401.1:c.90_102del	NP_001070869.1:p.Leu31ArgfsTer19
XM_005269235.2:c.90_102del	XP_005269292.1:p.Leu31ArgfsTer19
XM_011539008.1:c.132_144del	XP_011537310.1:p.Leu45ArgfsTer19
NM_000020.3:c.90_102del MANE Select	NP_000011.2:p.Leu31ArgfsTer19
NM_001077401.2:c.90_102del	NP_001070869.1:p.Leu31ArgfsTer19