Canonical Allele Identifier: CA2036266993

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913180_51913184delinsGGGCC , CM000674.2:g.51913180_51913184delinsGGGCC	GRCh38
NC_000012.11:g.52306964_52306968delinsGGGCC , CM000674.1:g.52306964_52306968delinsGGGCC	GRCh37
NC_000012.10:g.50593231_50593235delinsGGGCC	NCBI36
NG_009549.1:g.10763_10767delinsGGGCC , LRG_543:g.10763_10767delinsGGGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.185_189delinsGGGCC	ENSP00000446724.2:p.Gly62=
ENST00000551576.6:c.143_147delinsGGGCC	ENSP00000455848.2:p.Gly48=
ENST00000552678.2:c.143_147delinsGGGCC	ENSP00000457394.2:p.Gly48=
ENST00000388922.9:c.143_147delinsGGGCC MANE Select	ENSP00000373574.4:p.Gly48=
ENST00000388922.8:c.143_147delinsGGGCC	ENSP00000373574.4:p.Gly48=
ENST00000419526.6:c.103+645_103+649delinsGGGCC	ENSP00000392492.2:n.103+645_103+649delins...
ENST00000547400.5:c.185_189delinsGGGCC	ENSP00000446724.1:p.Gly62=
ENST00000550683.5:c.185_189delinsGGGCC	ENSP00000447884.1:p.Gly62=
ENST00000551576.5:c.143_147delinsGGGCC	ENSP00000455848.1:p.Gly48=
NM_000020.2:c.143_147delinsGGGCC , LRG_543t1:c.143_147delinsGGGCC	NP_000011.2:p.Gly48=
NM_001077401.1:c.143_147delinsGGGCC	NP_001070869.1:p.Gly48=
XM_005269235.2:c.143_147delinsGGGCC	XP_005269292.1:p.Gly48=
XM_011539008.1:c.185_189delinsGGGCC	XP_011537310.1:p.Gly62=
NM_000020.3:c.143_147delinsGGGCC MANE Select	NP_000011.2:p.Gly48=
NM_001077401.2:c.143_147delinsGGGCC	NP_001070869.1:p.Gly48=