Canonical Allele Identifier: CA1139662701
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 982490
ClinVar RCV Id: RCV001262084
dbSNP Id: rs1940807412

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51915368_51915369insTCA , CM000674.2:g.51915368_51915369insTCA GRCh38
NC_000012.11:g.52309152_52309153insTCA , CM000674.1:g.52309152_52309153insTCA GRCh37
NC_000012.10:g.50595419_50595420insTCA NCBI36
NG_009549.1:g.12951_12952insTCA , LRG_543:g.12951_12952insTCA

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.646_647insTCA ENSP00000446724.2:p.Ala216delinsValThr
ENST00000551576.6:c.916_917insTCA ENSP00000455848.2:p.Ala306delinsValThr
ENST00000552678.2:c.916_917insTCA ENSP00000457394.2:p.Ala306delinsValThr
ENST00000388922.9:c.916_917insTCA MANE Select ENSP00000373574.4:p.Ala306delinsValThr
ENST00000388922.8:c.916_917insTCA ENSP00000373574.4:p.Ala306delinsValThr
ENST00000419526.6:c.394_395insTCA ENSP00000392492.2:p.Ala132delinsValThr
ENST00000550683.5:c.958_959insTCA ENSP00000447884.1:p.Ala320delinsValThr
NM_000020.2:c.916_917insTCA , LRG_543t1:c.916_917insTCA NP_000011.2:p.Ala306delinsValThr
NM_001077401.1:c.916_917insTCA NP_001070869.1:p.Ala306delinsValThr
XM_005269235.2:c.916_917insTCA XP_005269292.1:p.Ala306delinsValThr
XM_011539008.1:c.646_647insTCA XP_011537310.1:p.Ala216delinsValThr
XM_024449279.1:c.127_128insTCA XP_024305047.1:p.Ala43delinsValThr
NM_000020.3:c.916_917insTCA MANE Select NP_000011.2:p.Ala306delinsValThr
NM_001077401.2:c.916_917insTCA NP_001070869.1:p.Ala306delinsValThr