Canonical Allele Identifier: CA2036266291

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912510_51912511delinsGC , CM000674.2:g.51912510_51912511delinsGC	GRCh38
NC_000012.11:g.52306294_52306295delinsGC , CM000674.1:g.52306294_52306295delinsGC	GRCh37
NC_000012.10:g.50592561_50592562delinsGC	NCBI36
NG_009549.1:g.10093_10094delinsGC , LRG_543:g.10093_10094delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.78_79delinsGC	ENSP00000446724.2:p.Met26=
ENST00000551576.6:c.36_37delinsGC	ENSP00000455848.2:p.Met12=
ENST00000552678.2:c.36_37delinsGC	ENSP00000457394.2:p.Met12=
ENST00000388922.9:c.36_37delinsGC MANE Select	ENSP00000373574.4:p.Met12=
ENST00000388922.8:c.36_37delinsGC	ENSP00000373574.4:p.Met12=
ENST00000419526.6:c.78_79delinsGC	ENSP00000392492.2:p.Met26=
ENST00000547400.5:c.78_79delinsGC	ENSP00000446724.1:p.Met26=
ENST00000550683.5:c.78_79delinsGC	ENSP00000447884.1:p.Met26=
ENST00000551576.5:c.36_37delinsGC	ENSP00000455848.1:p.Met12=
NM_000020.2:c.36_37delinsGC , LRG_543t1:c.36_37delinsGC	NP_000011.2:p.Met12=
NM_001077401.1:c.36_37delinsGC	NP_001070869.1:p.Met12=
XM_005269235.2:c.36_37delinsGC	XP_005269292.1:p.Met12=
XM_011539008.1:c.78_79delinsGC	XP_011537310.1:p.Met26=
NM_000020.3:c.36_37delinsGC MANE Select	NP_000011.2:p.Met12=
NM_001077401.2:c.36_37delinsGC	NP_001070869.1:p.Met12=