Canonical Allele Identifier: CA2499221742

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913115_51913118del , CM000674.2:g.51913115_51913118del	GRCh38
NC_000012.11:g.52306899_52306902del , CM000674.1:g.52306899_52306902del	GRCh37
NC_000012.10:g.50593166_50593169del	NCBI36
NG_009549.1:g.10698_10701del , LRG_543:g.10698_10701del

Transcript Alleles

HGVS	Amino-acid Change
NM_000020.3:c.78_81del MANE Select	NP_000011.2:p.Ser27GlyfsTer5
ENST00000388922.9:c.78_81del MANE Select	ENSP00000373574.4:p.Ser27GlyfsTer5
NM_000020.2:c.78_81del , LRG_543t1:c.78_81del	NP_000011.2:p.Ser27GlyfsTer5
NM_001077401.1:c.78_81del	NP_001070869.1:p.Ser27GlyfsTer5
NM_001077401.2:c.78_81del	NP_001070869.1:p.Ser27GlyfsTer5
ENST00000388922.8:c.78_81del	ENSP00000373574.4:p.Ser27GlyfsTer5
ENST00000419526.6:c.103+580_103+583del	ENSP00000392492.2:n.103+580_103+583del
ENST00000547400.5:c.120_123del	ENSP00000446724.1:p.Ser41GlyfsTer5
ENST00000547400.6:c.120_123del	ENSP00000446724.2:p.Ser41GlyfsTer5
ENST00000550683.5:c.120_123del	ENSP00000447884.1:p.Ser41GlyfsTer5
ENST00000551576.5:c.78_81del	ENSP00000455848.1:p.Ser27GlyfsTer5
ENST00000551576.6:c.78_81del	ENSP00000455848.2:p.Ser27GlyfsTer5
ENST00000552678.2:c.78_81del	ENSP00000457394.2:p.Ser27GlyfsTer5
XM_005269235.2:c.78_81del	XP_005269292.1:p.Ser27GlyfsTer5
XM_011539008.1:c.120_123del	XP_011537310.1:p.Ser41GlyfsTer5