Canonical Allele Identifier: CA645294069
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426959
ClinVar RCV Id: RCV000489351
dbSNP Id: rs1085307872

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51913332_51913336del , CM000674.2:g.51913332_51913336del GRCh38
NC_000012.11:g.52307116_52307120del , CM000674.1:g.52307116_52307120del GRCh37
NC_000012.10:g.50593383_50593387del NCBI36
NG_009549.1:g.10915_10919del , LRG_543:g.10915_10919del

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.337_341del ENSP00000446724.2:p.Val113ProfsTer20
ENST00000551576.6:c.295_299del ENSP00000455848.2:p.Val99ProfsTer?
ENST00000552678.2:c.295_299del ENSP00000457394.2:p.Val99ProfsTer?
ENST00000388922.9:c.295_299del MANE Select ENSP00000373574.4:p.Val99ProfsTer?
ENST00000388922.8:c.295_299del ENSP00000373574.4:p.Val99ProfsTer?
ENST00000419526.6:c.103+797_103+801del ENSP00000392492.2:n.103+797_103+801del
ENST00000547400.5:c.337_341del ENSP00000446724.1:p.Val113ProfsTer20
ENST00000550683.5:c.337_341del ENSP00000447884.1:p.Val113ProfsTer?
NM_000020.2:c.295_299del , LRG_543t1:c.295_299del NP_000011.2:p.Val99ProfsTer?
NM_001077401.1:c.295_299del NP_001070869.1:p.Val99ProfsTer?
XM_005269235.2:c.295_299del XP_005269292.1:p.Val99ProfsTer?
XM_011539008.1:c.337_341del XP_011537310.1:p.Val113ProfsTer20
XM_024449279.1:c.-395_-391del XP_024305047.1:n.-395_-391del
NM_000020.3:c.295_299del MANE Select NP_000011.2:p.Val99ProfsTer?
NM_001077401.2:c.295_299del NP_001070869.1:p.Val99ProfsTer?