Canonical Allele Identifier: CA2795983300

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913219_51913220del , CM000674.2:g.51913219_51913220del	GRCh38
NC_000012.11:g.52307003_52307004del , CM000674.1:g.52307003_52307004del	GRCh37
NC_000012.10:g.50593270_50593271del	NCBI36
NG_009549.1:g.10802_10803del , LRG_543:g.10802_10803del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.224_225del	ENSP00000446724.2:p.Arg75ThrfsTer?
ENST00000551576.6:c.182_183del	ENSP00000455848.2:p.Arg61ThrfsTer?
ENST00000552678.2:c.182_183del	ENSP00000457394.2:p.Arg61ThrfsTer?
ENST00000388922.9:c.182_183del MANE Select	ENSP00000373574.4:p.Arg61ThrfsTer?
ENST00000388922.8:c.182_183del	ENSP00000373574.4:p.Arg61ThrfsTer?
ENST00000419526.6:c.103+684_103+685del	ENSP00000392492.2:n.103+684_103+685del
ENST00000547400.5:c.224_225del	ENSP00000446724.1:p.Arg75ThrfsTer?
ENST00000550683.5:c.224_225del	ENSP00000447884.1:p.Arg75ThrfsTer?
ENST00000551576.5:c.182_183del	ENSP00000455848.1:p.Arg61ThrfsTer?
NM_000020.2:c.182_183del , LRG_543t1:c.182_183del	NP_000011.2:p.Arg61ThrfsTer?
NM_001077401.1:c.182_183del	NP_001070869.1:p.Arg61ThrfsTer?
XM_005269235.2:c.182_183del	XP_005269292.1:p.Arg61ThrfsTer?
XM_011539008.1:c.224_225del	XP_011537310.1:p.Arg75ThrfsTer?
NM_000020.3:c.182_183del MANE Select	NP_000011.2:p.Arg61ThrfsTer?
NM_001077401.2:c.182_183del	NP_001070869.1:p.Arg61ThrfsTer?