Canonical Allele Identifier: CA2795983356

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920711_51920714del , CM000674.2:g.51920711_51920714del	GRCh38
NC_000012.11:g.52314495_52314498del , CM000674.1:g.52314495_52314498del	GRCh37
NC_000012.10:g.50600762_50600765del	NCBI36
NG_009549.1:g.18294_18297del , LRG_543:g.18294_18297del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1108-48_1108-45del	ENSP00000446724.2:n.1108-48_1108-45del
ENST00000551576.6:c.1378-48_1378-45del	ENSP00000455848.2:n.1378-48_1378-45del
ENST00000388922.9:c.1378-48_1378-45del MANE Select	ENSP00000373574.4:n.1378-48_1378-45del
ENST00000388922.8:c.1378-48_1378-45del	ENSP00000373574.4:n.1378-48_1378-45del
ENST00000419526.6:c.856-48_856-45del	ENSP00000392492.2:n.856-48_856-45del
ENST00000550683.5:c.1420-48_1420-45del	ENSP00000447884.1:n.1420-48_1420-45del
NM_000020.2:c.1378-48_1378-45del , LRG_543t1:c.1378-48_1378-45del	NP_000011.2:n.1378-48_1378-45del
NM_001077401.1:c.1378-48_1378-45del	NP_001070869.1:n.1378-48_1378-45del
XM_005269235.2:c.1378-48_1378-45del	XP_005269292.1:n.1378-48_1378-45del
XM_011539008.1:c.1108-48_1108-45del	XP_011537310.1:n.1108-48_1108-45del
XM_024449279.1:c.589-48_589-45del	XP_024305047.1:n.589-48_589-45del
NM_000020.3:c.1378-48_1378-45del MANE Select	NP_000011.2:n.1378-48_1378-45del
NM_001077401.2:c.1378-48_1378-45del	NP_001070869.1:n.1378-48_1378-45del