Canonical Allele Identifier: CA2036239979

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51919145_51919146delinsTG , CM000674.2:g.51919145_51919146delinsTG	GRCh38
NC_000012.11:g.52312929_52312930delinsTG , CM000674.1:g.52312929_52312930delinsTG	GRCh37
NC_000012.10:g.50599196_50599197delinsTG	NCBI36
NG_009549.1:g.16728_16729delinsTG , LRG_543:g.16728_16729delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1107+30_1107+31delinsTG	ENSP00000446724.2:n.1107+30_1107+31delinsTG
ENST00000551576.6:c.1377+30_1377+31delinsTG	ENSP00000455848.2:n.1377+30_1377+31delinsTG
ENST00000552678.2:c.1407_1408delinsTG	ENSP00000457394.2:p.Arg469=
ENST00000388922.9:c.1377+30_1377+31delinsTG MANE Select	ENSP00000373574.4:n.1377+30_1377+31delinsTG
ENST00000388922.8:c.1377+30_1377+31delinsTG	ENSP00000373574.4:n.1377+30_1377+31delinsTG
ENST00000419526.6:c.855+30_855+31delinsTG	ENSP00000392492.2:n.855+30_855+31delinsTG
ENST00000547632.1:n.682_683delinsTG
ENST00000550683.5:c.1419+30_1419+31delinsTG	ENSP00000447884.1:n.1419+30_1419+31delinsTG
ENST00000552678.1:c.412_413delinsTG
NM_000020.2:c.1377+30_1377+31delinsTG , LRG_543t1:c.1377+30_1377+31delinsTG	NP_000011.2:n.1377+30_1377+31delinsTG
NM_001077401.1:c.1377+30_1377+31delinsTG	NP_001070869.1:n.1377+30_1377+31delinsTG
XM_005269235.2:c.1377+30_1377+31delinsTG	XP_005269292.1:n.1377+30_1377+31delinsTG
XM_011539008.1:c.1107+30_1107+31delinsTG	XP_011537310.1:n.1107+30_1107+31delinsTG
XM_024449279.1:c.588+30_588+31delinsTG	XP_024305047.1:n.588+30_588+31delinsTG
NM_000020.3:c.1377+30_1377+31delinsTG MANE Select	NP_000011.2:n.1377+30_1377+31delinsTG
NM_001077401.2:c.1377+30_1377+31delinsTG	NP_001070869.1:n.1377+30_1377+31delinsTG