Canonical Allele Identifier: CA16619568
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420920
ClinVar RCV Id: RCV000483150
dbSNP Id: rs1064794791

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51913339del , CM000674.2:g.51913339del GRCh38
NC_000012.11:g.52307123del , CM000674.1:g.52307123del GRCh37
NC_000012.10:g.50593390del NCBI36
NG_009549.1:g.10922del , LRG_543:g.10922del

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.302del MANE Select ENSP00000373574.4:p.Leu101ArgfsTer21
ENST00000388922.8:c.302del ENSP00000373574.4:p.Leu101ArgfsTer21
ENST00000419526.6:c.103+804del ENSP00000392492.2:p.=
ENST00000547400.5:c.344del ENSP00000446724.1:p.Leu115ArgfsTer?
ENST00000550683.5:c.344del ENSP00000447884.1:p.Leu115ArgfsTer21
NM_000020.2:c.302del , LRG_543t1:c.302del NP_000011.2:p.Leu101ArgfsTer21
NM_001077401.1:c.302del NP_001070869.1:p.Leu101ArgfsTer21
XM_005269235.2:c.302del XP_005269292.1:p.Leu101ArgfsTer21
XM_011539008.1:c.344del XP_011537310.1:p.Leu115ArgfsTer?
XM_024449279.1:c.-388del XP_024305047.1:p.=
NM_000020.3:c.302del MANE Select NP_000011.2:p.Leu101ArgfsTer21
NM_001077401.2:c.302del NP_001070869.1:p.Leu101ArgfsTer21