Canonical Allele Identifier: CA2036266862

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913119_51913120delinsCG , CM000674.2:g.51913119_51913120delinsCG	GRCh38
NC_000012.11:g.52306903_52306904delinsCG , CM000674.1:g.52306903_52306904delinsCG	GRCh37
NC_000012.10:g.50593170_50593171delinsCG	NCBI36
NG_009549.1:g.10702_10703delinsCG , LRG_543:g.10702_10703delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.124_125delinsCG	ENSP00000446724.2:p.Arg42=
ENST00000551576.6:c.82_83delinsCG	ENSP00000455848.2:p.Arg28=
ENST00000552678.2:c.82_83delinsCG	ENSP00000457394.2:p.Arg28=
ENST00000388922.9:c.82_83delinsCG MANE Select	ENSP00000373574.4:p.Arg28=
ENST00000388922.8:c.82_83delinsCG	ENSP00000373574.4:p.Arg28=
ENST00000419526.6:c.103+584_103+585delinsCG	ENSP00000392492.2:n.103+584_103+585delinsCG
ENST00000547400.5:c.124_125delinsCG	ENSP00000446724.1:p.Arg42=
ENST00000550683.5:c.124_125delinsCG	ENSP00000447884.1:p.Arg42=
ENST00000551576.5:c.82_83delinsCG	ENSP00000455848.1:p.Arg28=
NM_000020.2:c.82_83delinsCG , LRG_543t1:c.82_83delinsCG	NP_000011.2:p.Arg28=
NM_001077401.1:c.82_83delinsCG	NP_001070869.1:p.Arg28=
XM_005269235.2:c.82_83delinsCG	XP_005269292.1:p.Arg28=
XM_011539008.1:c.124_125delinsCG	XP_011537310.1:p.Arg42=
NM_000020.3:c.82_83delinsCG MANE Select	NP_000011.2:p.Arg28=
NM_001077401.2:c.82_83delinsCG	NP_001070869.1:p.Arg28=