Canonical Allele Identifier: CA2036241544

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920664_51920665delinsAC , CM000674.2:g.51920664_51920665delinsAC	GRCh38
NC_000012.11:g.52314448_52314449delinsAC , CM000674.1:g.52314448_52314449delinsAC	GRCh37
NC_000012.10:g.50600715_50600716delinsAC	NCBI36
NG_009549.1:g.18247_18248delinsAC , LRG_543:g.18247_18248delinsAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1108-95_1108-94delinsAC	ENSP00000446724.2:n.1108-95_1108-94delins...
ENST00000551576.6:c.1378-95_1378-94delinsAC	ENSP00000455848.2:n.1378-95_1378-94delins...
ENST00000388922.9:c.1378-95_1378-94delinsAC MANE Select	ENSP00000373574.4:n.1378-95_1378-94delins...
ENST00000388922.8:c.1378-95_1378-94delinsAC	ENSP00000373574.4:n.1378-95_1378-94delins...
ENST00000419526.6:c.856-95_856-94delinsAC	ENSP00000392492.2:n.856-95_856-94delinsAC...
ENST00000550683.5:c.1420-95_1420-94delinsAC	ENSP00000447884.1:n.1420-95_1420-94delins...
NM_000020.2:c.1378-95_1378-94delinsAC , LRG_543t1:c.1378-95_1378-94delinsAC	NP_000011.2:n.1378-95_1378-94delinsAC
NM_001077401.1:c.1378-95_1378-94delinsAC	NP_001070869.1:n.1378-95_1378-94delinsAC
XM_005269235.2:c.1378-95_1378-94delinsAC	XP_005269292.1:n.1378-95_1378-94delinsAC
XM_011539008.1:c.1108-95_1108-94delinsAC	XP_011537310.1:n.1108-95_1108-94delinsAC
XM_024449279.1:c.589-95_589-94delinsAC	XP_024305047.1:n.589-95_589-94delinsAC
NM_000020.3:c.1378-95_1378-94delinsAC MANE Select	NP_000011.2:n.1378-95_1378-94delinsAC
NM_001077401.2:c.1378-95_1378-94delinsAC	NP_001070869.1:n.1378-95_1378-94delinsAC