Canonical Allele Identifier: CA2036241583

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1192710142
• gnomAD v4: 12-51920704-TCTCTGCATCTCTCTCTCTGCCTCCTCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920712_51920739del , CM000674.2:g.51920712_51920739del	GRCh38
NC_000012.11:g.52314496_52314523del , CM000674.1:g.52314496_52314523del	GRCh37
NC_000012.10:g.50600763_50600790del	NCBI36
NG_009549.1:g.18295_18322del , LRG_543:g.18295_18322del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1108-47_1108-20del	ENSP00000446724.2:n.1108-47_1108-20del
ENST00000551576.6:c.1378-47_1378-20del	ENSP00000455848.2:n.1378-47_1378-20del
ENST00000388922.9:c.1378-47_1378-20del MANE Select	ENSP00000373574.4:n.1378-47_1378-20del
ENST00000388922.8:c.1378-47_1378-20del	ENSP00000373574.4:n.1378-47_1378-20del
ENST00000419526.6:c.856-47_856-20del	ENSP00000392492.2:n.856-47_856-20del
ENST00000550683.5:c.1420-47_1420-20del	ENSP00000447884.1:n.1420-47_1420-20del
NM_000020.2:c.1378-47_1378-20del , LRG_543t1:c.1378-47_1378-20del	NP_000011.2:n.1378-47_1378-20del
NM_001077401.1:c.1378-47_1378-20del	NP_001070869.1:n.1378-47_1378-20del
XM_005269235.2:c.1378-47_1378-20del	XP_005269292.1:n.1378-47_1378-20del
XM_011539008.1:c.1108-47_1108-20del	XP_011537310.1:n.1108-47_1108-20del
XM_024449279.1:c.589-47_589-20del	XP_024305047.1:n.589-47_589-20del
NM_000020.3:c.1378-47_1378-20del MANE Select	NP_000011.2:n.1378-47_1378-20del
NM_001077401.2:c.1378-47_1378-20del	NP_001070869.1:n.1378-47_1378-20del