Canonical Allele Identifier: CA2036269459

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915321_51915322delinsAG , CM000674.2:g.51915321_51915322delinsAG	GRCh38
NC_000012.11:g.52309105_52309106delinsAG , CM000674.1:g.52309105_52309106delinsAG	GRCh37
NC_000012.10:g.50595372_50595373delinsAG	NCBI36
NG_009549.1:g.12904_12905delinsAG , LRG_543:g.12904_12905delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.599_600delinsAG	ENSP00000446724.2:p.Gln200=
ENST00000551576.6:c.869_870delinsAG	ENSP00000455848.2:p.Gln290=
ENST00000552678.2:c.869_870delinsAG	ENSP00000457394.2:p.Gln290=
ENST00000388922.9:c.869_870delinsAG MANE Select	ENSP00000373574.4:p.Gln290=
ENST00000388922.8:c.869_870delinsAG	ENSP00000373574.4:p.Gln290=
ENST00000419526.6:c.347_348delinsAG	ENSP00000392492.2:p.Gln116=
ENST00000550683.5:c.911_912delinsAG	ENSP00000447884.1:p.Gln304=
NM_000020.2:c.869_870delinsAG , LRG_543t1:c.869_870delinsAG	NP_000011.2:p.Gln290=
NM_001077401.1:c.869_870delinsAG	NP_001070869.1:p.Gln290=
XM_005269235.2:c.869_870delinsAG	XP_005269292.1:p.Gln290=
XM_011539008.1:c.599_600delinsAG	XP_011537310.1:p.Gln200=
XM_024449279.1:c.80_81delinsAG	XP_024305047.1:p.Gln27=
NM_000020.3:c.869_870delinsAG MANE Select	NP_000011.2:p.Gln290=
NM_001077401.2:c.869_870delinsAG	NP_001070869.1:p.Gln290=