Canonical Allele Identifier: CA16614048

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1060503240
• MyVariant Identifiers: chr12:g.52307855_52307856del (hg19) ; chr12:g.51914071_51914072del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914071_51914072del , CM000674.2:g.51914071_51914072del	GRCh38
NC_000012.11:g.52307855_52307856del , CM000674.1:g.52307855_52307856del	GRCh37
NC_000012.10:g.50594122_50594123del	NCBI36
NG_009549.1:g.11654_11655del , LRG_543:g.11654_11655del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.356-368_356-367del	ENSP00000446724.2:n.356-368_356-367del
ENST00000551576.6:c.623_624del	ENSP00000455848.2:p.Val208GlyfsTer16
ENST00000552678.2:c.623_624del	ENSP00000457394.2:p.Val208GlyfsTer16
ENST00000388922.9:c.623_624del MANE Select	ENSP00000373574.4:p.Val208GlyfsTer16
ENST00000388922.8:c.623_624del	ENSP00000373574.4:p.Val208GlyfsTer16
ENST00000419526.6:c.104-368_104-367del	ENSP00000392492.2:n.104-368_104-367del
ENST00000547400.5:c.356-368_356-367del	ENSP00000446724.1:n.356-368_356-367del
ENST00000550683.5:c.665_666del	ENSP00000447884.1:p.Val222GlyfsTer16
NM_000020.2:c.623_624del , LRG_543t1:c.623_624del	NP_000011.2:p.Val208GlyfsTer16
NM_001077401.1:c.623_624del	NP_001070869.1:p.Val208GlyfsTer16
XM_005269235.2:c.623_624del	XP_005269292.1:p.Val208GlyfsTer16
XM_011539008.1:c.356-368_356-367del	XP_011537310.1:n.356-368_356-367del
XM_024449279.1:c.-165+301_-165+302del	XP_024305047.1:n.-165+301_-165+302del
NM_000020.3:c.623_624del MANE Select	NP_000011.2:p.Val208GlyfsTer16
NM_001077401.2:c.623_624del	NP_001070869.1:p.Val208GlyfsTer16