Canonical Allele Identifier: CA2977854270

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920749dup , CM000674.2:g.51920749dup	GRCh38
NC_000012.11:g.52314533dup , CM000674.1:g.52314533dup	GRCh37
NC_000012.10:g.50600800dup	NCBI36
NG_009549.1:g.18332dup , LRG_543:g.18332dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1108-10dup	ENSP00000446724.2:n.1108-10dup
ENST00000551576.6:c.1378-10dup	ENSP00000455848.2:n.1378-10dup
ENST00000388922.9:c.1378-10dup MANE Select	ENSP00000373574.4:n.1378-10dup
ENST00000388922.8:c.1378-10dup	ENSP00000373574.4:n.1378-10dup
ENST00000419526.6:c.856-10dup	ENSP00000392492.2:n.856-10dup
ENST00000550683.5:c.1420-10dup	ENSP00000447884.1:n.1420-10dup
NM_000020.2:c.1378-10dup , LRG_543t1:c.1378-10dup	NP_000011.2:n.1378-10dup
NM_001077401.1:c.1378-10dup	NP_001070869.1:n.1378-10dup
XM_005269235.2:c.1378-10dup	XP_005269292.1:n.1378-10dup
XM_011539008.1:c.1108-10dup	XP_011537310.1:n.1108-10dup
XM_024449279.1:c.589-10dup	XP_024305047.1:n.589-10dup
NM_000020.3:c.1378-10dup MANE Select	NP_000011.2:n.1378-10dup
NM_001077401.2:c.1378-10dup	NP_001070869.1:n.1378-10dup