Canonical Allele Identifier: CA2036269488
Gene: ACVRL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51915368_51915369delinsGC , CM000674.2:g.51915368_51915369delinsGC GRCh38
NC_000012.11:g.52309152_52309153delinsGC , CM000674.1:g.52309152_52309153delinsGC GRCh37
NC_000012.10:g.50595419_50595420delinsGC NCBI36
NG_009549.1:g.12951_12952delinsGC , LRG_543:g.12951_12952delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.646_647delinsGC ENSP00000446724.2:p.Ala216=
ENST00000551576.6:c.916_917delinsGC ENSP00000455848.2:p.Ala306=
ENST00000552678.2:c.916_917delinsGC ENSP00000457394.2:p.Ala306=
ENST00000388922.9:c.916_917delinsGC MANE Select ENSP00000373574.4:p.Ala306=
ENST00000388922.8:c.916_917delinsGC ENSP00000373574.4:p.Ala306=
ENST00000419526.6:c.394_395delinsGC ENSP00000392492.2:p.Ala132=
ENST00000550683.5:c.958_959delinsGC ENSP00000447884.1:p.Ala320=
NM_000020.2:c.916_917delinsGC , LRG_543t1:c.916_917delinsGC NP_000011.2:p.Ala306=
NM_001077401.1:c.916_917delinsGC NP_001070869.1:p.Ala306=
XM_005269235.2:c.916_917delinsGC XP_005269292.1:p.Ala306=
XM_011539008.1:c.646_647delinsGC XP_011537310.1:p.Ala216=
XM_024449279.1:c.127_128delinsGC XP_024305047.1:p.Ala43=
NM_000020.3:c.916_917delinsGC MANE Select NP_000011.2:p.Ala306=
NM_001077401.2:c.916_917delinsGC NP_001070869.1:p.Ala306=