Canonical Allele Identifier: CA2036236260

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915491_51915492delinsGC , CM000674.2:g.51915491_51915492delinsGC	GRCh38
NC_000012.11:g.52309275_52309276delinsGC , CM000674.1:g.52309275_52309276delinsGC	GRCh37
NC_000012.10:g.50595542_50595543delinsGC	NCBI36
NG_009549.1:g.13074_13075delinsGC , LRG_543:g.13074_13075delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.769_770delinsGC	ENSP00000446724.2:p.Ala257=
ENST00000551576.6:c.1039_1040delinsGC	ENSP00000455848.2:p.Ala347=
ENST00000552678.2:c.1039_1040delinsGC	ENSP00000457394.2:p.Ala347=
ENST00000388922.9:c.1039_1040delinsGC MANE Select	ENSP00000373574.4:p.Ala347=
ENST00000388922.8:c.1039_1040delinsGC	ENSP00000373574.4:p.Ala347=
ENST00000419526.6:c.517_518delinsGC	ENSP00000392492.2:p.Ala173=
ENST00000550683.5:c.1081_1082delinsGC	ENSP00000447884.1:p.Ala361=
ENST00000552678.1:c.44_45delinsGC
NM_000020.2:c.1039_1040delinsGC , LRG_543t1:c.1039_1040delinsGC	NP_000011.2:p.Ala347=
NM_001077401.1:c.1039_1040delinsGC	NP_001070869.1:p.Ala347=
XM_005269235.2:c.1039_1040delinsGC	XP_005269292.1:p.Ala347=
XM_011539008.1:c.769_770delinsGC	XP_011537310.1:p.Ala257=
XM_024449279.1:c.250_251delinsGC	XP_024305047.1:p.Ala84=
NM_000020.3:c.1039_1040delinsGC MANE Select	NP_000011.2:p.Ala347=
NM_001077401.2:c.1039_1040delinsGC	NP_001070869.1:p.Ala347=