Canonical Allele Identifier: CA2618860260

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51920673-CCTCTGCATCTCTCTCCCGACCCCCTCCTCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920689_51920719del , CM000674.2:g.51920689_51920719del	GRCh38
NC_000012.11:g.52314473_52314503del , CM000674.1:g.52314473_52314503del	GRCh37
NC_000012.10:g.50600740_50600770del	NCBI36
NG_009549.1:g.18272_18302del , LRG_543:g.18272_18302del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1108-70_1108-40del	ENSP00000446724.2:n.1108-70_1108-40del
ENST00000551576.6:c.1378-70_1378-40del	ENSP00000455848.2:n.1378-70_1378-40del
ENST00000388922.9:c.1378-70_1378-40del MANE Select	ENSP00000373574.4:n.1378-70_1378-40del
ENST00000388922.8:c.1378-70_1378-40del	ENSP00000373574.4:n.1378-70_1378-40del
ENST00000419526.6:c.856-70_856-40del	ENSP00000392492.2:n.856-70_856-40del
ENST00000550683.5:c.1420-70_1420-40del	ENSP00000447884.1:n.1420-70_1420-40del
NM_000020.2:c.1378-70_1378-40del , LRG_543t1:c.1378-70_1378-40del	NP_000011.2:n.1378-70_1378-40del
NM_001077401.1:c.1378-70_1378-40del	NP_001070869.1:n.1378-70_1378-40del
XM_005269235.2:c.1378-70_1378-40del	XP_005269292.1:n.1378-70_1378-40del
XM_011539008.1:c.1108-70_1108-40del	XP_011537310.1:n.1108-70_1108-40del
XM_024449279.1:c.589-70_589-40del	XP_024305047.1:n.589-70_589-40del
NM_000020.3:c.1378-70_1378-40del MANE Select	NP_000011.2:n.1378-70_1378-40del
NM_001077401.2:c.1378-70_1378-40del	NP_001070869.1:n.1378-70_1378-40del