Canonical Allele Identifier: CA658656300

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 464763
• ClinVar RCV Id: RCV000535409 ; RCV002350270 ; RCV001821542
• dbSNP Id: rs1555152774
• MyVariant Identifiers: chr12:g.52307772_52307773insA (hg19) ; chr12:g.51913988_51913989insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913988_51913989insA , CM000674.2:g.51913988_51913989insA	GRCh38
NC_000012.11:g.52307772_52307773insA , CM000674.1:g.52307772_52307773insA	GRCh37
NC_000012.10:g.50594039_50594040insA	NCBI36
NG_009549.1:g.11571_11572insA , LRG_543:g.11571_11572insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.356-451_356-450insA	ENSP00000446724.2:n.356-451_356-450insA
ENST00000551576.6:c.540_541insA	ENSP00000455848.2:p.Asp181ArgfsTer?
ENST00000552678.2:c.540_541insA	ENSP00000457394.2:p.Asp181ArgfsTer?
ENST00000388922.9:c.540_541insA MANE Select	ENSP00000373574.4:p.Asp181ArgfsTer?
ENST00000388922.8:c.540_541insA	ENSP00000373574.4:p.Asp181ArgfsTer?
ENST00000419526.6:c.104-451_104-450insA	ENSP00000392492.2:n.104-451_104-450insA
ENST00000547400.5:c.356-451_356-450insA	ENSP00000446724.1:n.356-451_356-450insA
ENST00000550683.5:c.582_583insA	ENSP00000447884.1:p.Asp195ArgfsTer?
NM_000020.2:c.540_541insA , LRG_543t1:c.540_541insA	NP_000011.2:p.Asp181ArgfsTer?
NM_001077401.1:c.540_541insA	NP_001070869.1:p.Asp181ArgfsTer?
XM_005269235.2:c.540_541insA	XP_005269292.1:p.Asp181ArgfsTer?
XM_011539008.1:c.356-451_356-450insA	XP_011537310.1:n.356-451_356-450insA
XM_024449279.1:c.-165+218_-165+219insA	XP_024305047.1:n.-165+218_-165+219insA
NM_000020.3:c.540_541insA MANE Select	NP_000011.2:p.Asp181ArgfsTer?
NM_001077401.2:c.540_541insA	NP_001070869.1:p.Asp181ArgfsTer?