Canonical Allele Identifier: CA2036266199

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912456_51912457delinsGC , CM000674.2:g.51912456_51912457delinsGC	GRCh38
NC_000012.11:g.52306240_52306241delinsGC , CM000674.1:g.52306240_52306241delinsGC	GRCh37
NC_000012.10:g.50592507_50592508delinsGC	NCBI36
NG_009549.1:g.10039_10040delinsGC , LRG_543:g.10039_10040delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.24_25delinsGC	ENSP00000446724.2:p.Leu8=
ENST00000551576.6:c.-5-14_-5-13delinsGC	ENSP00000455848.2:n.-5-14_-5-13delinsGC
ENST00000552678.2:c.-5-14_-5-13delinsGC	ENSP00000457394.2:n.-5-14_-5-13delinsGC
ENST00000388922.9:c.-5-14_-5-13delinsGC MANE Select	ENSP00000373574.4:n.-5-14_-5-13delinsGC
ENST00000388922.8:c.-5-14_-5-13delinsGC	ENSP00000373574.4:n.-5-14_-5-13delinsGC
ENST00000419526.6:c.24_25delinsGC	ENSP00000392492.2:p.Leu8=
ENST00000547400.5:c.24_25delinsGC	ENSP00000446724.1:p.Leu8=
ENST00000550683.5:c.24_25delinsGC	ENSP00000447884.1:p.Leu8=
ENST00000551576.5:c.-5-14_-5-13delinsGC	ENSP00000455848.1:n.-5-14_-5-13delinsGC
NM_000020.2:c.-5-14_-5-13delinsGC , LRG_543t1:c.-5-14_-5-13delinsGC	NP_000011.2:n.-5-14_-5-13delinsGC
NM_001077401.1:c.-19_-18delinsGC	NP_001070869.1:n.-19_-18delinsGC
XM_005269235.2:c.-5-14_-5-13delinsGC	XP_005269292.1:n.-5-14_-5-13delinsGC
XM_011539008.1:c.24_25delinsGC	XP_011537310.1:p.Leu8=
NM_000020.3:c.-5-14_-5-13delinsGC MANE Select	NP_000011.2:n.-5-14_-5-13delinsGC
NM_001077401.2:c.-19_-18delinsGC	NP_001070869.1:n.-19_-18delinsGC