Canonical Allele Identifier: CA2036241338

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920505_51920506delinsAT , CM000674.2:g.51920505_51920506delinsAT	GRCh38
NC_000012.11:g.52314289_52314290delinsAT , CM000674.1:g.52314289_52314290delinsAT	GRCh37
NC_000012.10:g.50600556_50600557delinsAT	NCBI36
NG_009549.1:g.18088_18089delinsAT , LRG_543:g.18088_18089delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1108-254_1108-253delinsAT	ENSP00000446724.2:n.1108-254_1108-253delinsAT
ENST00000551576.6:c.1378-254_1378-253delinsAT	ENSP00000455848.2:n.1378-254_1378-253delinsAT
ENST00000388922.9:c.1378-254_1378-253delinsAT MANE Select	ENSP00000373574.4:n.1378-254_1378-253delinsAT
ENST00000388922.8:c.1378-254_1378-253delinsAT	ENSP00000373574.4:n.1378-254_1378-253delinsAT
ENST00000419526.6:c.856-254_856-253delinsAT	ENSP00000392492.2:n.856-254_856-253delinsAT
ENST00000550683.5:c.1420-254_1420-253delinsAT	ENSP00000447884.1:n.1420-254_1420-253delinsAT
NM_000020.2:c.1378-254_1378-253delinsAT , LRG_543t1:c.1378-254_1378-253delinsAT	NP_000011.2:n.1378-254_1378-253delinsAT
NM_001077401.1:c.1378-254_1378-253delinsAT	NP_001070869.1:n.1378-254_1378-253delinsAT
XM_005269235.2:c.1378-254_1378-253delinsAT	XP_005269292.1:n.1378-254_1378-253delinsAT
XM_011539008.1:c.1108-254_1108-253delinsAT	XP_011537310.1:n.1108-254_1108-253delinsAT
XM_024449279.1:c.589-254_589-253delinsAT	XP_024305047.1:n.589-254_589-253delinsAT
NM_000020.3:c.1378-254_1378-253delinsAT MANE Select	NP_000011.2:n.1378-254_1378-253delinsAT
NM_001077401.2:c.1378-254_1378-253delinsAT	NP_001070869.1:n.1378-254_1378-253delinsAT