Canonical Allele Identifier: CA2695216743

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915318dup , CM000674.2:g.51915318dup	GRCh38
NC_000012.11:g.52309102dup , CM000674.1:g.52309102dup	GRCh37
NC_000012.10:g.50595369dup	NCBI36
NG_009549.1:g.12901dup , LRG_543:g.12901dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.596dup	ENSP00000446724.2:p.Gln200AlafsTer?
ENST00000551576.6:c.866dup	ENSP00000455848.2:p.Gln290AlafsTer?
ENST00000552678.2:c.866dup	ENSP00000457394.2:p.Gln290AlafsTer?
ENST00000388922.9:c.866dup MANE Select	ENSP00000373574.4:p.Gln290AlafsTer?
ENST00000388922.8:c.866dup	ENSP00000373574.4:p.Gln290AlafsTer?
ENST00000419526.6:c.344dup	ENSP00000392492.2:p.Gln116AlafsTer?
ENST00000550683.5:c.908dup	ENSP00000447884.1:p.Gln304AlafsTer?
NM_000020.2:c.866dup , LRG_543t1:c.866dup	NP_000011.2:p.Gln290AlafsTer?
NM_001077401.1:c.866dup	NP_001070869.1:p.Gln290AlafsTer?
XM_005269235.2:c.866dup	XP_005269292.1:p.Gln290AlafsTer?
XM_011539008.1:c.596dup	XP_011537310.1:p.Gln200AlafsTer?
XM_024449279.1:c.77dup	XP_024305047.1:p.Gln27AlafsTer?
NM_000020.3:c.866dup MANE Select	NP_000011.2:p.Gln290AlafsTer?
NM_001077401.2:c.866dup	NP_001070869.1:p.Gln290AlafsTer?