Canonical Allele Identifier: CA2580086428

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1770127
• ClinVar RCV Id: RCV002385910

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913170_51913185del , CM000674.2:g.51913170_51913185del	GRCh38
NC_000012.11:g.52306954_52306969del , CM000674.1:g.52306954_52306969del	GRCh37
NC_000012.10:g.50593221_50593236del	NCBI36
NG_009549.1:g.10753_10768del , LRG_543:g.10753_10768del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.175_190del	ENSP00000446724.2:p.Thr59GlyfsTer4
ENST00000551576.6:c.133_148del	ENSP00000455848.2:p.Thr45GlyfsTer4
ENST00000552678.2:c.133_148del	ENSP00000457394.2:p.Thr45GlyfsTer4
ENST00000388922.9:c.133_148del MANE Select	ENSP00000373574.4:p.Thr45GlyfsTer4
ENST00000388922.8:c.133_148del	ENSP00000373574.4:p.Thr45GlyfsTer4
ENST00000419526.6:c.103+635_103+650del	ENSP00000392492.2:n.103+635_103+650del
ENST00000547400.5:c.175_190del	ENSP00000446724.1:p.Thr59GlyfsTer4
ENST00000550683.5:c.175_190del	ENSP00000447884.1:p.Thr59GlyfsTer4
ENST00000551576.5:c.133_148del	ENSP00000455848.1:p.Thr45GlyfsTer4
NM_000020.2:c.133_148del , LRG_543t1:c.133_148del	NP_000011.2:p.Thr45GlyfsTer4
NM_001077401.1:c.133_148del	NP_001070869.1:p.Thr45GlyfsTer4
XM_005269235.2:c.133_148del	XP_005269292.1:p.Thr45GlyfsTer4
XM_011539008.1:c.175_190del	XP_011537310.1:p.Thr59GlyfsTer4
NM_000020.3:c.133_148del MANE Select	NP_000011.2:p.Thr45GlyfsTer4
NM_001077401.2:c.133_148del	NP_001070869.1:p.Thr45GlyfsTer4