Canonical Allele Identifier: CA645594556
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920855del , CM000674.2:g.51920855del GRCh38
NC_000012.11:g.52314639del , CM000674.1:g.52314639del GRCh37
NC_000012.10:g.50600906del NCBI36
NG_009549.1:g.18438del , LRG_543:g.18438del

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.1204del ENSP00000446724.2:p.Ile402LeufsTer10
ENST00000551576.6:c.1474del ENSP00000455848.2:p.Ile492LeufsTer10
ENST00000388922.9:c.1474del MANE Select ENSP00000373574.4:p.Ile492LeufsTer10
ENST00000388922.8:c.1474del ENSP00000373574.4:p.Ile492LeufsTer10
ENST00000419526.6:c.952del ENSP00000392492.2:p.Ile318LeufsTer10
ENST00000550683.5:c.1516del ENSP00000447884.1:p.Ile506LeufsTer10
NM_000020.2:c.1474del , LRG_543t1:c.1474del NP_000011.2:p.Ile492LeufsTer10
NM_001077401.1:c.1474del NP_001070869.1:p.Ile492LeufsTer10
XM_005269235.2:c.1474del XP_005269292.1:p.Ile492LeufsTer10
XM_011539008.1:c.1204del XP_011537310.1:p.Ile402LeufsTer10
XM_024449279.1:c.685del XP_024305047.1:p.Ile229LeufsTer10
NM_000020.3:c.1474del MANE Select NP_000011.2:p.Ile492LeufsTer10
NM_001077401.2:c.1474del NP_001070869.1:p.Ile492LeufsTer10