Canonical Allele Identifier: CA236367232

Gene: ACVRL1

Linked Data

• dbSNP Id: rs548124781
• gnomAD v2: 12-52313917-C-CCCTGGGATGGGTTGATGAGCTT
• gnomAD v3: 12-51920133-C-CCCTGGGATGGGTTGATGAGCTT
• gnomAD v4: 12-51920133-C-CCCTGGGATGGGTTGATGAGCTT
• MyVariant Identifiers: chr12:g.52313917_52313918insCCTGGGATGGGTTGATGAGCTT (hg19) ; chr12:g.51920133_51920134insCCTGGGATGGGTTGATGAGCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920156_51920177dup , CM000674.2:g.51920156_51920177dup	GRCh38
NC_000012.11:g.52313940_52313961dup , CM000674.1:g.52313940_52313961dup	GRCh37
NC_000012.10:g.50600207_50600228dup	NCBI36
NG_009549.1:g.17739_17760dup , LRG_543:g.17739_17760dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1108-603_1108-582dup	ENSP00000446724.2:n.1108-603_1108-582dup
ENST00000551576.6:c.1378-603_1378-582dup	ENSP00000455848.2:n.1378-603_1378-582dup
ENST00000388922.9:c.1378-603_1378-582dup MANE Select	ENSP00000373574.4:n.1378-603_1378-582dup
ENST00000388922.8:c.1378-603_1378-582dup	ENSP00000373574.4:n.1378-603_1378-582dup
ENST00000419526.6:c.856-603_856-582dup	ENSP00000392492.2:n.856-603_856-582dup
ENST00000550683.5:c.1420-603_1420-582dup	ENSP00000447884.1:n.1420-603_1420-582dup
NM_000020.2:c.1378-603_1378-582dup , LRG_543t1:c.1378-603_1378-582dup	NP_000011.2:n.1378-603_1378-582dup
NM_001077401.1:c.1378-603_1378-582dup	NP_001070869.1:n.1378-603_1378-582dup
XM_005269235.2:c.1378-603_1378-582dup	XP_005269292.1:n.1378-603_1378-582dup
XM_011539008.1:c.1108-603_1108-582dup	XP_011537310.1:n.1108-603_1108-582dup
XM_024449279.1:c.589-603_589-582dup	XP_024305047.1:n.589-603_589-582dup
NM_000020.3:c.1378-603_1378-582dup MANE Select	NP_000011.2:n.1378-603_1378-582dup
NM_001077401.2:c.1378-603_1378-582dup	NP_001070869.1:n.1378-603_1378-582dup