Canonical Allele Identifier: CA947668812

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1940952609
• gnomAD v3: 12-51920691-GACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA-G
• gnomAD v4: 12-51920691-GACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920698_51920756del , CM000674.2:g.51920698_51920756del	GRCh38
NC_000012.11:g.52314482_52314540del , CM000674.1:g.52314482_52314540del	GRCh37
NC_000012.10:g.50600749_50600807del	NCBI36
NG_009549.1:g.18281_18339del , LRG_543:g.18281_18339del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1108-61_1108-3del	ENSP00000446724.2:n.1108-61_1108-3del
ENST00000551576.6:c.1378-61_1378-3del	ENSP00000455848.2:n.1378-61_1378-3del
ENST00000388922.9:c.1378-61_1378-3del MANE Select	ENSP00000373574.4:n.1378-61_1378-3del
ENST00000388922.8:c.1378-61_1378-3del	ENSP00000373574.4:n.1378-61_1378-3del
ENST00000419526.6:c.856-61_856-3del	ENSP00000392492.2:n.856-61_856-3del
ENST00000550683.5:c.1420-61_1420-3del	ENSP00000447884.1:n.1420-61_1420-3del
NM_000020.2:c.1378-61_1378-3del , LRG_543t1:c.1378-61_1378-3del	NP_000011.2:n.1378-61_1378-3del
NM_001077401.1:c.1378-61_1378-3del	NP_001070869.1:n.1378-61_1378-3del
XM_005269235.2:c.1378-61_1378-3del	XP_005269292.1:n.1378-61_1378-3del
XM_011539008.1:c.1108-61_1108-3del	XP_011537310.1:n.1108-61_1108-3del
XM_024449279.1:c.589-61_589-3del	XP_024305047.1:n.589-61_589-3del
NM_000020.3:c.1378-61_1378-3del MANE Select	NP_000011.2:n.1378-61_1378-3del
NM_001077401.2:c.1378-61_1378-3del	NP_001070869.1:n.1378-61_1378-3del