Canonical Allele Identifier: CA605053099

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1285378074
• gnomAD v2: 12-52314706-GC-G
• gnomAD v3: 12-51920922-GC-G
• gnomAD v4: 12-51920922-GC-G
• MyVariant Identifiers: chr12:g.52314707del (hg19) ; chr12:g.51920923del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920923del , CM000674.2:g.51920923del	GRCh38
NC_000012.11:g.52314707del , CM000674.1:g.52314707del	GRCh37
NC_000012.10:g.50600974del	NCBI36
NG_009549.1:g.18506del , LRG_543:g.18506del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*30del	ENSP00000455848.2:n.*30del
ENST00000388922.9:c.*30del MANE Select	ENSP00000373574.4:n.*30del
ENST00000388922.8:c.*30del	ENSP00000373574.4:n.*30del
ENST00000419526.6:c.*30del	ENSP00000392492.2:n.*30del
ENST00000550683.5:c.*30del	ENSP00000447884.1:n.*30del
NM_000020.2:c.*30del , LRG_543t1:c.*30del	NP_000011.2:n.*30del
NM_001077401.1:c.*30del	NP_001070869.1:n.*30del
XM_005269235.2:c.*30del	XP_005269292.1:n.*30del
XM_011539008.1:c.*30del	XP_011537310.1:n.*30del
XM_024449279.1:c.*30del	XP_024305047.1:n.*30del
NM_000020.3:c.*30del MANE Select	NP_000011.2:n.*30del
NM_001077401.2:c.*30del	NP_001070869.1:n.*30del