Canonical Allele Identifier: CA6573187

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 309444
• ClinVar RCV Id: RCV000369205 ; RCV000755783
• dbSNP Id: rs761647766 ; rs776770258 ; rs886049609
• ExAC: 12:52314715 TG / T
• gnomAD: 12:52314715 TG / T
• MyVariant Identifiers: chr12:g.52314722del (hg19) ; chr12:g.52314716del (hg19) ; chr12:g.51920938del (hg38) ; chr12:g.51920933del (hg38) ; chr12:g.51920932del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920938del , CM000674.2:g.51920938del	GRCh38
NC_000012.11:g.52314722del , CM000674.1:g.52314722del	GRCh37
NC_000012.10:g.50600989del	NCBI36
NG_009549.1:g.18521del , LRG_543:g.18521del

Transcript Alleles

HGVS	Amino-acid change
ENST00000388922.9:c.*45del MANE Select	ENSP00000373574.4:p.=
ENST00000388922.8:c.*45del	ENSP00000373574.4:p.=
ENST00000419526.6:c.*45del	ENSP00000392492.2:p.=
ENST00000550683.5:c.*45del	ENSP00000447884.1:p.=
NM_000020.2:c.*45del , LRG_543t1:c.*45del	NP_000011.2:p.=
NM_001077401.1:c.*45del	NP_001070869.1:p.=
XM_005269235.2:c.*45del	XP_005269292.1:p.=
XM_011539008.1:c.*45del	XP_011537310.1:p.=
XM_024449279.1:c.*45del	XP_024305047.1:p.=
NM_000020.3:c.*45del MANE Select	NP_000011.2:p.=
NM_001077401.2:c.*45del	NP_001070869.1:p.=