Canonical Allele Identifier: CA236367503

Gene: ACVRL1

Linked Data

• dbSNP Id: rs900163751
• MyVariant Identifiers: chr12:g.52314227_52314230del (hg19) ; chr12:g.51920443_51920446del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920446_51920449del , CM000674.2:g.51920446_51920449del	GRCh38
NC_000012.11:g.52314230_52314233del , CM000674.1:g.52314230_52314233del	GRCh37
NC_000012.10:g.50600497_50600500del	NCBI36
NG_009549.1:g.18029_18032del , LRG_543:g.18029_18032del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1108-313_1108-310del	ENSP00000446724.2:n.1108-313_1108-310del
ENST00000551576.6:c.1378-313_1378-310del	ENSP00000455848.2:n.1378-313_1378-310del
ENST00000388922.9:c.1378-313_1378-310del MANE Select	ENSP00000373574.4:n.1378-313_1378-310del
ENST00000388922.8:c.1378-313_1378-310del	ENSP00000373574.4:n.1378-313_1378-310del
ENST00000419526.6:c.856-313_856-310del	ENSP00000392492.2:n.856-313_856-310del
ENST00000550683.5:c.1420-313_1420-310del	ENSP00000447884.1:n.1420-313_1420-310del
NM_000020.2:c.1378-313_1378-310del , LRG_543t1:c.1378-313_1378-310del	NP_000011.2:n.1378-313_1378-310del
NM_001077401.1:c.1378-313_1378-310del	NP_001070869.1:n.1378-313_1378-310del
XM_005269235.2:c.1378-313_1378-310del	XP_005269292.1:n.1378-313_1378-310del
XM_011539008.1:c.1108-313_1108-310del	XP_011537310.1:n.1108-313_1108-310del
XM_024449279.1:c.589-313_589-310del	XP_024305047.1:n.589-313_589-310del
NM_000020.3:c.1378-313_1378-310del MANE Select	NP_000011.2:n.1378-313_1378-310del
NM_001077401.2:c.1378-313_1378-310del	NP_001070869.1:n.1378-313_1378-310del