Canonical Allele Identifier: CA605052098

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1310064476
• gnomAD v2: 12-52309785-GA-G
• gnomAD v3: 12-51916001-GA-G
• gnomAD v4: 12-51916001-GA-G
• MyVariant Identifiers: chr12:g.52309786del (hg19) ; chr12:g.51916002del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916002del , CM000674.2:g.51916002del	GRCh38
NC_000012.11:g.52309786del , CM000674.1:g.52309786del	GRCh37
NC_000012.10:g.50596053del	NCBI36
NG_009549.1:g.13585del , LRG_543:g.13585del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.779-34del	ENSP00000446724.2:n.779-34del
ENST00000551576.6:c.1049-34del	ENSP00000455848.2:n.1049-34del
ENST00000552678.2:c.1049-34del	ENSP00000457394.2:n.1049-34del
ENST00000388922.9:c.1049-34del MANE Select	ENSP00000373574.4:n.1049-34del
ENST00000388922.8:c.1049-34del	ENSP00000373574.4:n.1049-34del
ENST00000419526.6:c.527-34del	ENSP00000392492.2:n.527-34del
ENST00000547632.1:n.290del
ENST00000550683.5:c.1091-34del	ENSP00000447884.1:n.1091-34del
ENST00000552678.1:c.54-34del
NM_000020.2:c.1049-34del , LRG_543t1:c.1049-34del	NP_000011.2:n.1049-34del
NM_001077401.1:c.1049-34del	NP_001070869.1:n.1049-34del
XM_005269235.2:c.1049-34del	XP_005269292.1:n.1049-34del
XM_011539008.1:c.779-34del	XP_011537310.1:n.779-34del
XM_024449279.1:c.260-34del	XP_024305047.1:n.260-34del
NM_000020.3:c.1049-34del MANE Select	NP_000011.2:n.1049-34del
NM_001077401.2:c.1049-34del	NP_001070869.1:n.1049-34del