Canonical Allele Identifier: CA2695216688

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913338_51913344del , CM000674.2:g.51913338_51913344del	GRCh38
NC_000012.11:g.52307122_52307128del , CM000674.1:g.52307122_52307128del	GRCh37
NC_000012.10:g.50593389_50593395del	NCBI36
NG_009549.1:g.10921_10927del , LRG_543:g.10921_10927del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.343_349del	ENSP00000446724.2:p.Leu115TrpfsTer?
ENST00000551576.6:c.301_307del	ENSP00000455848.2:p.Leu101TrpfsTer19
ENST00000552678.2:c.301_307del	ENSP00000457394.2:p.Leu101TrpfsTer19
ENST00000388922.9:c.301_307del MANE Select	ENSP00000373574.4:p.Leu101TrpfsTer19
ENST00000388922.8:c.301_307del	ENSP00000373574.4:p.Leu101TrpfsTer19
ENST00000419526.6:c.103+803_103+809del	ENSP00000392492.2:n.103+803_103+809del
ENST00000547400.5:c.343_349del	ENSP00000446724.1:p.Leu115TrpfsTer?
ENST00000550683.5:c.343_349del	ENSP00000447884.1:p.Leu115TrpfsTer19
NM_000020.2:c.301_307del , LRG_543t1:c.301_307del	NP_000011.2:p.Leu101TrpfsTer19
NM_001077401.1:c.301_307del	NP_001070869.1:p.Leu101TrpfsTer19
XM_005269235.2:c.301_307del	XP_005269292.1:p.Leu101TrpfsTer19
XM_011539008.1:c.343_349del	XP_011537310.1:p.Leu115TrpfsTer?
XM_024449279.1:c.-389_-383del	XP_024305047.1:n.-389_-383del
NM_000020.3:c.301_307del MANE Select	NP_000011.2:p.Leu101TrpfsTer19
NM_001077401.2:c.301_307del	NP_001070869.1:p.Leu101TrpfsTer19