Canonical Allele Identifier: CA2697554499

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 2706028
• ClinVar RCV Id: RCV003510649

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920807_51920809del , CM000674.2:g.51920807_51920809del	GRCh38
NC_000012.11:g.52314591_52314593del , CM000674.1:g.52314591_52314593del	GRCh37
NC_000012.10:g.50600858_50600860del	NCBI36
NG_009549.1:g.18390_18392del , LRG_543:g.18390_18392del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1156_1158del	ENSP00000446724.2:p.Pro386del
ENST00000551576.6:c.1426_1428del	ENSP00000455848.2:p.Pro476del
ENST00000388922.9:c.1426_1428del MANE Select	ENSP00000373574.4:p.Pro476del
ENST00000388922.8:c.1426_1428del	ENSP00000373574.4:p.Pro476del
ENST00000419526.6:c.904_906del	ENSP00000392492.2:p.Pro302del
ENST00000550683.5:c.1468_1470del	ENSP00000447884.1:p.Pro490del
NM_000020.2:c.1426_1428del , LRG_543t1:c.1426_1428del	NP_000011.2:p.Pro476del
NM_001077401.1:c.1426_1428del	NP_001070869.1:p.Pro476del
XM_005269235.2:c.1426_1428del	XP_005269292.1:p.Pro476del
XM_011539008.1:c.1156_1158del	XP_011537310.1:p.Pro386del
XM_024449279.1:c.637_639del	XP_024305047.1:p.Pro213del
NM_000020.3:c.1426_1428del MANE Select	NP_000011.2:p.Pro476del
NM_001077401.2:c.1426_1428del	NP_001070869.1:p.Pro476del