Canonical Allele Identifier: CA236367589

Gene: ACVRL1

Linked Data

• dbSNP Id: rs891602504
• gnomAD v3: 12-51920619-TC-T
• gnomAD v4: 12-51920619-TC-T
• MyVariant Identifiers: chr12:g.52314404del (hg19) ; chr12:g.51920620del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920623del , CM000674.2:g.51920623del	GRCh38
NC_000012.11:g.52314407del , CM000674.1:g.52314407del	GRCh37
NC_000012.10:g.50600674del	NCBI36
NG_009549.1:g.18206del , LRG_543:g.18206del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1108-136del	ENSP00000446724.2:n.1108-136del
ENST00000551576.6:c.1378-136del	ENSP00000455848.2:n.1378-136del
ENST00000388922.9:c.1378-136del MANE Select	ENSP00000373574.4:n.1378-136del
ENST00000388922.8:c.1378-136del	ENSP00000373574.4:n.1378-136del
ENST00000419526.6:c.856-136del	ENSP00000392492.2:n.856-136del
ENST00000550683.5:c.1420-136del	ENSP00000447884.1:n.1420-136del
NM_000020.2:c.1378-136del , LRG_543t1:c.1378-136del	NP_000011.2:n.1378-136del
NM_001077401.1:c.1378-136del	NP_001070869.1:n.1378-136del
XM_005269235.2:c.1378-136del	XP_005269292.1:n.1378-136del
XM_011539008.1:c.1108-136del	XP_011537310.1:n.1108-136del
XM_024449279.1:c.589-136del	XP_024305047.1:n.589-136del
NM_000020.3:c.1378-136del MANE Select	NP_000011.2:n.1378-136del
NM_001077401.2:c.1378-136del	NP_001070869.1:n.1378-136del