Canonical Allele Identifier: CA2036269105

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914525_51914526delinsTC , CM000674.2:g.51914525_51914526delinsTC	GRCh38
NC_000012.11:g.52308309_52308310delinsTC , CM000674.1:g.52308309_52308310delinsTC	GRCh37
NC_000012.10:g.50594576_50594577delinsTC	NCBI36
NG_009549.1:g.12108_12109delinsTC , LRG_543:g.12108_12109delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.442_443delinsTC	ENSP00000446724.2:p.Ser148=
ENST00000551576.6:c.712_713delinsTC	ENSP00000455848.2:p.Ser238=
ENST00000552678.2:c.712_713delinsTC	ENSP00000457394.2:p.Ser238=
ENST00000388922.9:c.712_713delinsTC MANE Select	ENSP00000373574.4:p.Ser238=
ENST00000388922.8:c.712_713delinsTC	ENSP00000373574.4:p.Ser238=
ENST00000419526.6:c.190_191delinsTC	ENSP00000392492.2:p.Ser64=
ENST00000547400.5:c.442_443delinsTC	ENSP00000446724.1:p.Ser148=
ENST00000550683.5:c.754_755delinsTC	ENSP00000447884.1:p.Ser252=
NM_000020.2:c.712_713delinsTC , LRG_543t1:c.712_713delinsTC	NP_000011.2:p.Ser238=
NM_001077401.1:c.712_713delinsTC	NP_001070869.1:p.Ser238=
XM_005269235.2:c.712_713delinsTC	XP_005269292.1:p.Ser238=
XM_011539008.1:c.442_443delinsTC	XP_011537310.1:p.Ser148=
XM_024449279.1:c.-78_-77delinsTC	XP_024305047.1:n.-78_-77delinsTC
NM_000020.3:c.712_713delinsTC MANE Select	NP_000011.2:p.Ser238=
NM_001077401.2:c.712_713delinsTC	NP_001070869.1:p.Ser238=