Canonical Allele Identifier: CA2036241879
Gene: ACVRL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920830_51920831delinsGC , CM000674.2:g.51920830_51920831delinsGC GRCh38
NC_000012.11:g.52314614_52314615delinsGC , CM000674.1:g.52314614_52314615delinsGC GRCh37
NC_000012.10:g.50600881_50600882delinsGC NCBI36
NG_009549.1:g.18413_18414delinsGC , LRG_543:g.18413_18414delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1449_1450delinsGC MANE Select ENSP00000373574.4:p.Leu483=
ENST00000388922.8:c.1449_1450delinsGC ENSP00000373574.4:p.Leu483=
ENST00000419526.6:c.927_928delinsGC ENSP00000392492.2:p.Leu309=
ENST00000550683.5:c.1491_1492delinsGC ENSP00000447884.1:p.Leu497=
NM_000020.2:c.1449_1450delinsGC , LRG_543t1:c.1449_1450delinsGC NP_000011.2:p.Leu483=
NM_001077401.1:c.1449_1450delinsGC NP_001070869.1:p.Leu483=
XM_005269235.2:c.1449_1450delinsGC XP_005269292.1:p.Leu483=
XM_011539008.1:c.1179_1180delinsGC XP_011537310.1:p.Leu393=
XM_024449279.1:c.660_661delinsGC XP_024305047.1:p.Leu220=
NM_000020.3:c.1449_1450delinsGC MANE Select NP_000011.2:p.Leu483=
NM_001077401.2:c.1449_1450delinsGC NP_001070869.1:p.Leu483=