Canonical Allele Identifier: CA2036269458

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915320_51915322delinsCAG , CM000674.2:g.51915320_51915322delinsCAG	GRCh38
NC_000012.11:g.52309104_52309106delinsCAG , CM000674.1:g.52309104_52309106delinsCAG	GRCh37
NC_000012.10:g.50595371_50595373delinsCAG	NCBI36
NG_009549.1:g.12903_12905delinsCAG , LRG_543:g.12903_12905delinsCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.598_600delinsCAG	ENSP00000446724.2:p.Gln200=
ENST00000551576.6:c.868_870delinsCAG	ENSP00000455848.2:p.Gln290=
ENST00000552678.2:c.868_870delinsCAG	ENSP00000457394.2:p.Gln290=
ENST00000388922.9:c.868_870delinsCAG MANE Select	ENSP00000373574.4:p.Gln290=
ENST00000388922.8:c.868_870delinsCAG	ENSP00000373574.4:p.Gln290=
ENST00000419526.6:c.346_348delinsCAG	ENSP00000392492.2:p.Gln116=
ENST00000550683.5:c.910_912delinsCAG	ENSP00000447884.1:p.Gln304=
NM_000020.2:c.868_870delinsCAG , LRG_543t1:c.868_870delinsCAG	NP_000011.2:p.Gln290=
NM_001077401.1:c.868_870delinsCAG	NP_001070869.1:p.Gln290=
XM_005269235.2:c.868_870delinsCAG	XP_005269292.1:p.Gln290=
XM_011539008.1:c.598_600delinsCAG	XP_011537310.1:p.Gln200=
XM_024449279.1:c.79_81delinsCAG	XP_024305047.1:p.Gln27=
NM_000020.3:c.868_870delinsCAG MANE Select	NP_000011.2:p.Gln290=
NM_001077401.2:c.868_870delinsCAG	NP_001070869.1:p.Gln290=