Canonical Allele Identifier: CA915948521

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 810898
• ClinVar RCV Id: RCV001000251
• dbSNP Id: rs1592223149

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914183_51914194del , CM000674.2:g.51914183_51914194del	GRCh38
NC_000012.11:g.52307967_52307978del , CM000674.1:g.52307967_52307978del	GRCh37
NC_000012.10:g.50594234_50594245del	NCBI36
NG_009549.1:g.11766_11777del , LRG_543:g.11766_11777del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.356-256_356-245del	ENSP00000446724.2:n.356-256_356-245del
ENST00000551576.6:c.625+110_625+121del	ENSP00000455848.2:n.625+110_625+121del
ENST00000552678.2:c.625+110_625+121del	ENSP00000457394.2:n.625+110_625+121del
ENST00000388922.9:c.625+110_625+121del MANE Select	ENSP00000373574.4:n.625+110_625+121del
ENST00000388922.8:c.625+110_625+121del	ENSP00000373574.4:n.625+110_625+121del
ENST00000419526.6:c.104-256_104-245del	ENSP00000392492.2:n.104-256_104-245del
ENST00000547400.5:c.356-256_356-245del	ENSP00000446724.1:n.356-256_356-245del
ENST00000550683.5:c.667+110_667+121del	ENSP00000447884.1:n.667+110_667+121del
NM_000020.2:c.625+110_625+121del , LRG_543t1:c.625+110_625+121del	NP_000011.2:n.625+110_625+121del
NM_001077401.1:c.625+110_625+121del	NP_001070869.1:n.625+110_625+121del
XM_005269235.2:c.625+110_625+121del	XP_005269292.1:n.625+110_625+121del
XM_011539008.1:c.356-256_356-245del	XP_011537310.1:n.356-256_356-245del
XM_024449279.1:c.-164-256_-164-245del	XP_024305047.1:n.-164-256_-164-245del
NM_000020.3:c.625+110_625+121del MANE Select	NP_000011.2:n.625+110_625+121del
NM_001077401.2:c.625+110_625+121del	NP_001070869.1:n.625+110_625+121del