Canonical Allele Identifier: CA2036241359

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920511_51920512delinsTA , CM000674.2:g.51920511_51920512delinsTA	GRCh38
NC_000012.11:g.52314295_52314296delinsTA , CM000674.1:g.52314295_52314296delinsTA	GRCh37
NC_000012.10:g.50600562_50600563delinsTA	NCBI36
NG_009549.1:g.18094_18095delinsTA , LRG_543:g.18094_18095delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1108-248_1108-247delinsTA	ENSP00000446724.2:n.1108-248_1108-247delinsTA
ENST00000551576.6:c.1378-248_1378-247delinsTA	ENSP00000455848.2:n.1378-248_1378-247delinsTA
ENST00000388922.9:c.1378-248_1378-247delinsTA MANE Select	ENSP00000373574.4:n.1378-248_1378-247delinsTA
ENST00000388922.8:c.1378-248_1378-247delinsTA	ENSP00000373574.4:n.1378-248_1378-247delinsTA
ENST00000419526.6:c.856-248_856-247delinsTA	ENSP00000392492.2:n.856-248_856-247delinsTA
ENST00000550683.5:c.1420-248_1420-247delinsTA	ENSP00000447884.1:n.1420-248_1420-247delinsTA
NM_000020.2:c.1378-248_1378-247delinsTA , LRG_543t1:c.1378-248_1378-247delinsTA	NP_000011.2:n.1378-248_1378-247delinsTA
NM_001077401.1:c.1378-248_1378-247delinsTA	NP_001070869.1:n.1378-248_1378-247delinsTA
XM_005269235.2:c.1378-248_1378-247delinsTA	XP_005269292.1:n.1378-248_1378-247delinsTA
XM_011539008.1:c.1108-248_1108-247delinsTA	XP_011537310.1:n.1108-248_1108-247delinsTA
XM_024449279.1:c.589-248_589-247delinsTA	XP_024305047.1:n.589-248_589-247delinsTA
NM_000020.3:c.1378-248_1378-247delinsTA MANE Select	NP_000011.2:n.1378-248_1378-247delinsTA
NM_001077401.2:c.1378-248_1378-247delinsTA	NP_001070869.1:n.1378-248_1378-247delinsTA