Canonical Allele Identifier: CA16614160
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411310
dbSNP Id: rs1060503244

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51915368_51915369delinsAA , CM000674.2:g.51915368_51915369delinsAA GRCh38
NC_000012.11:g.52309152_52309153delinsAA , CM000674.1:g.52309152_52309153delinsAA GRCh37
NC_000012.10:g.50595419_50595420delinsAA NCBI36
NG_009549.1:g.12951_12952delinsAA , LRG_543:g.12951_12952delinsAA

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.916_917delinsAA MANE Select ENSP00000373574.4:p.Ala306Lys
ENST00000388922.8:c.916_917delinsAA ENSP00000373574.4:p.Ala306Lys
ENST00000419526.6:c.394_395delinsAA ENSP00000392492.2:p.Ala132Lys
ENST00000550683.5:c.958_959delinsAA ENSP00000447884.1:p.Ala320Lys
NM_000020.2:c.916_917delinsAA , LRG_543t1:c.916_917delinsAA NP_000011.2:p.Ala306Lys
NM_001077401.1:c.916_917delinsAA NP_001070869.1:p.Ala306Lys
XM_005269235.2:c.916_917delinsAA XP_005269292.1:p.Ala306Lys
XM_011539008.1:c.646_647delinsAA XP_011537310.1:p.Ala216Lys
XM_024449279.1:c.127_128delinsAA XP_024305047.1:p.Ala43Lys
NM_000020.3:c.916_917delinsAA MANE Select NP_000011.2:p.Ala306Lys
NM_001077401.2:c.916_917delinsAA NP_001070869.1:p.Ala306Lys