Canonical Allele Identifier: CA2499221746

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1073797
• ClinVar RCV Id: RCV001386902 ; RCV002322366
• dbSNP Id: rs2139067412

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913657_51913658del , CM000674.2:g.51913657_51913658del	GRCh38
NC_000012.11:g.52307441_52307442del , CM000674.1:g.52307441_52307442del	GRCh37
NC_000012.10:g.50593708_50593709del	NCBI36
NG_009549.1:g.11240_11241del , LRG_543:g.11240_11241del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+307_355+308del	ENSP00000446724.2:n.355+307_355+308del
ENST00000551576.6:c.412_413del	ENSP00000455848.2:p.Leu138GlyfsTer30
ENST00000552678.2:c.412_413del	ENSP00000457394.2:p.Leu138GlyfsTer30
ENST00000388922.9:c.412_413del MANE Select	ENSP00000373574.4:p.Leu138GlyfsTer30
ENST00000388922.8:c.412_413del	ENSP00000373574.4:p.Leu138GlyfsTer30
ENST00000419526.6:c.104-782_104-781del	ENSP00000392492.2:n.104-782_104-781del
ENST00000547400.5:c.355+307_355+308del	ENSP00000446724.1:n.355+307_355+308del
ENST00000550683.5:c.454_455del	ENSP00000447884.1:p.Leu152GlyfsTer30
NM_000020.2:c.412_413del , LRG_543t1:c.412_413del	NP_000011.2:p.Leu138GlyfsTer30
NM_001077401.1:c.412_413del	NP_001070869.1:p.Leu138GlyfsTer30
XM_005269235.2:c.412_413del	XP_005269292.1:p.Leu138GlyfsTer30
XM_011539008.1:c.355+307_355+308del	XP_011537310.1:n.355+307_355+308del
XM_024449279.1:c.-278_-277del	XP_024305047.1:n.-278_-277del
NM_000020.3:c.412_413del MANE Select	NP_000011.2:p.Leu138GlyfsTer30
NM_001077401.2:c.412_413del	NP_001070869.1:p.Leu138GlyfsTer30