Canonical Allele Identifier: CA605238840

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1191651019
• gnomAD v2: 12-52309187-CT-C
• MyVariant Identifiers: chr12:g.52309188del (hg19) ; chr12:g.51915404del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915405del , CM000674.2:g.51915405del	GRCh38
NC_000012.11:g.52309189del , CM000674.1:g.52309189del	GRCh37
NC_000012.10:g.50595456del	NCBI36
NG_009549.1:g.12988del , LRG_543:g.12988del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.683del	ENSP00000446724.2:p.Phe228SerfsTer?
ENST00000551576.6:c.953del	ENSP00000455848.2:p.Phe318SerfsTer?
ENST00000552678.2:c.953del	ENSP00000457394.2:p.Phe318SerfsTer?
ENST00000388922.9:c.953del MANE Select	ENSP00000373574.4:p.Phe318SerfsTer?
ENST00000388922.8:c.953del	ENSP00000373574.4:p.Phe318SerfsTer?
ENST00000419526.6:c.431del	ENSP00000392492.2:p.Phe144SerfsTer?
ENST00000550683.5:c.995del	ENSP00000447884.1:p.Phe332SerfsTer?
NM_000020.2:c.953del , LRG_543t1:c.953del	NP_000011.2:p.Phe318SerfsTer?
NM_001077401.1:c.953del	NP_001070869.1:p.Phe318SerfsTer?
XM_005269235.2:c.953del	XP_005269292.1:p.Phe318SerfsTer?
XM_011539008.1:c.683del	XP_011537310.1:p.Phe228SerfsTer?
XM_024449279.1:c.164del	XP_024305047.1:p.Phe55SerfsTer?
NM_000020.3:c.953del MANE Select	NP_000011.2:p.Phe318SerfsTer?
NM_001077401.2:c.953del	NP_001070869.1:p.Phe318SerfsTer?