Canonical Allele Identifier: CA2739272044

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 2810344
• ClinVar RCV Id: RCV003620697

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913784_51913791del , CM000674.2:g.51913784_51913791del	GRCh38
NC_000012.11:g.52307568_52307575del , CM000674.1:g.52307568_52307575del	GRCh37
NC_000012.10:g.50593835_50593842del	NCBI36
NG_009549.1:g.11367_11374del , LRG_543:g.11367_11374del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+434_355+441del	ENSP00000446724.2:n.355+434_355+441del
ENST00000551576.6:c.525+14_525+21del	ENSP00000455848.2:n.525+14_525+21del
ENST00000552678.2:c.525+14_525+21del	ENSP00000457394.2:n.525+14_525+21del
ENST00000388922.9:c.525+14_525+21del MANE Select	ENSP00000373574.4:n.525+14_525+21del
ENST00000388922.8:c.525+14_525+21del	ENSP00000373574.4:n.525+14_525+21del
ENST00000419526.6:c.104-655_104-648del	ENSP00000392492.2:n.104-655_104-648del
ENST00000547400.5:c.355+434_355+441del	ENSP00000446724.1:n.355+434_355+441del
ENST00000550683.5:c.567+14_567+21del	ENSP00000447884.1:n.567+14_567+21del
NM_000020.2:c.525+14_525+21del , LRG_543t1:c.525+14_525+21del	NP_000011.2:n.525+14_525+21del
NM_001077401.1:c.525+14_525+21del	NP_001070869.1:n.525+14_525+21del
XM_005269235.2:c.525+14_525+21del	XP_005269292.1:n.525+14_525+21del
XM_011539008.1:c.355+434_355+441del	XP_011537310.1:n.355+434_355+441del
XM_024449279.1:c.-165+14_-165+21del	XP_024305047.1:n.-165+14_-165+21del
NM_000020.3:c.525+14_525+21del MANE Select	NP_000011.2:n.525+14_525+21del
NM_001077401.2:c.525+14_525+21del	NP_001070869.1:n.525+14_525+21del