Canonical Allele Identifier: CA236367237

Gene: ACVRL1

Linked Data

• dbSNP Id: rs548124781
• MyVariant Identifiers: chr12:g.52313918_52313939del (hg19) ; chr12:g.51920134_51920155del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920156_51920177del , CM000674.2:g.51920156_51920177del	GRCh38
NC_000012.11:g.52313940_52313961del , CM000674.1:g.52313940_52313961del	GRCh37
NC_000012.10:g.50600207_50600228del	NCBI36
NG_009549.1:g.17739_17760del , LRG_543:g.17739_17760del

Transcript Alleles

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