Canonical Allele Identifier: CA2575161629

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51920711-ATCTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920719_51920722del , CM000674.2:g.51920719_51920722del	GRCh38
NC_000012.11:g.52314503_52314506del , CM000674.1:g.52314503_52314506del	GRCh37
NC_000012.10:g.50600770_50600773del	NCBI36
NG_009549.1:g.18302_18305del , LRG_543:g.18302_18305del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1108-40_1108-37del	ENSP00000446724.2:n.1108-40_1108-37del
ENST00000551576.6:c.1378-40_1378-37del	ENSP00000455848.2:n.1378-40_1378-37del
ENST00000388922.9:c.1378-40_1378-37del MANE Select	ENSP00000373574.4:n.1378-40_1378-37del
ENST00000388922.8:c.1378-40_1378-37del	ENSP00000373574.4:n.1378-40_1378-37del
ENST00000419526.6:c.856-40_856-37del	ENSP00000392492.2:n.856-40_856-37del
ENST00000550683.5:c.1420-40_1420-37del	ENSP00000447884.1:n.1420-40_1420-37del
NM_000020.2:c.1378-40_1378-37del , LRG_543t1:c.1378-40_1378-37del	NP_000011.2:n.1378-40_1378-37del
NM_001077401.1:c.1378-40_1378-37del	NP_001070869.1:n.1378-40_1378-37del
XM_005269235.2:c.1378-40_1378-37del	XP_005269292.1:n.1378-40_1378-37del
XM_011539008.1:c.1108-40_1108-37del	XP_011537310.1:n.1108-40_1108-37del
XM_024449279.1:c.589-40_589-37del	XP_024305047.1:n.589-40_589-37del
NM_000020.3:c.1378-40_1378-37del MANE Select	NP_000011.2:n.1378-40_1378-37del
NM_001077401.2:c.1378-40_1378-37del	NP_001070869.1:n.1378-40_1378-37del