Canonical Allele Identifier: CA2618859599

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51913747-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913748del , CM000674.2:g.51913748del	GRCh38
NC_000012.11:g.52307532del , CM000674.1:g.52307532del	GRCh37
NC_000012.10:g.50593799del	NCBI36
NG_009549.1:g.11331del , LRG_543:g.11331del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+398del	ENSP00000446724.2:n.355+398del
ENST00000551576.6:c.503del	ENSP00000455848.2:p.Glu168GlyfsTer?
ENST00000552678.2:c.503del	ENSP00000457394.2:p.Glu168GlyfsTer?
ENST00000388922.9:c.503del MANE Select	ENSP00000373574.4:p.Glu168GlyfsTer?
ENST00000388922.8:c.503del	ENSP00000373574.4:p.Glu168GlyfsTer?
ENST00000419526.6:c.104-691del	ENSP00000392492.2:n.104-691del
ENST00000547400.5:c.355+398del	ENSP00000446724.1:n.355+398del
ENST00000550683.5:c.545del	ENSP00000447884.1:p.Glu182GlyfsTer?
NM_000020.2:c.503del , LRG_543t1:c.503del	NP_000011.2:p.Glu168GlyfsTer?
NM_001077401.1:c.503del	NP_001070869.1:p.Glu168GlyfsTer?
XM_005269235.2:c.503del	XP_005269292.1:p.Glu168GlyfsTer?
XM_011539008.1:c.355+398del	XP_011537310.1:n.355+398del
XM_024449279.1:c.-187del	XP_024305047.1:n.-187del
NM_000020.3:c.503del MANE Select	NP_000011.2:p.Glu168GlyfsTer?
NM_001077401.2:c.503del	NP_001070869.1:p.Glu168GlyfsTer?