Canonical Allele Identifier: CA2618860247

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51920663-GACCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920667_51920670del , CM000674.2:g.51920667_51920670del	GRCh38
NC_000012.11:g.52314451_52314454del , CM000674.1:g.52314451_52314454del	GRCh37
NC_000012.10:g.50600718_50600721del	NCBI36
NG_009549.1:g.18250_18253del , LRG_543:g.18250_18253del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1108-92_1108-89del	ENSP00000446724.2:n.1108-92_1108-89del
ENST00000551576.6:c.1378-92_1378-89del	ENSP00000455848.2:n.1378-92_1378-89del
ENST00000388922.9:c.1378-92_1378-89del MANE Select	ENSP00000373574.4:n.1378-92_1378-89del
ENST00000388922.8:c.1378-92_1378-89del	ENSP00000373574.4:n.1378-92_1378-89del
ENST00000419526.6:c.856-92_856-89del	ENSP00000392492.2:n.856-92_856-89del
ENST00000550683.5:c.1420-92_1420-89del	ENSP00000447884.1:n.1420-92_1420-89del
NM_000020.2:c.1378-92_1378-89del , LRG_543t1:c.1378-92_1378-89del	NP_000011.2:n.1378-92_1378-89del
NM_001077401.1:c.1378-92_1378-89del	NP_001070869.1:n.1378-92_1378-89del
XM_005269235.2:c.1378-92_1378-89del	XP_005269292.1:n.1378-92_1378-89del
XM_011539008.1:c.1108-92_1108-89del	XP_011537310.1:n.1108-92_1108-89del
XM_024449279.1:c.589-92_589-89del	XP_024305047.1:n.589-92_589-89del
NM_000020.3:c.1378-92_1378-89del MANE Select	NP_000011.2:n.1378-92_1378-89del
NM_001077401.2:c.1378-92_1378-89del	NP_001070869.1:n.1378-92_1378-89del