Canonical Allele Identifier: CA2036241607

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920723_51920739delinsGCCTCCTCTCCTCTGCA , CM000674.2:g.51920723_51920739delinsGCCTCCTCTCCTCTGCA	GRCh38
NC_000012.11:g.52314507_52314523delinsGCCTCCTCTCCTCTGCA , CM000674.1:g.52314507_52314523delinsGCCTCCTCTCCTCTGCA	GRCh37
NC_000012.10:g.50600774_50600790delinsGCCTCCTCTCCTCTGCA	NCBI36
NG_009549.1:g.18306_18322delinsGCCTCCTCTCCTCTGCA , LRG_543:g.18306_18322delinsGCCTCCTCTCCTCTGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1108-36_1108-20delinsGCCTCCTCTCCTCTGCA	ENSP00000446724.2:n.1108-36_1108-20delins...
ENST00000551576.6:c.1378-36_1378-20delinsGCCTCCTCTCCTCTGCA	ENSP00000455848.2:n.1378-36_1378-20delins...
ENST00000388922.9:c.1378-36_1378-20delinsGCCTCCTCTCCTCTGCA MANE Select	ENSP00000373574.4:n.1378-36_1378-20delins...
ENST00000388922.8:c.1378-36_1378-20delinsGCCTCCTCTCCTCTGCA	ENSP00000373574.4:n.1378-36_1378-20delins...
ENST00000419526.6:c.856-36_856-20delinsGCCTCCTCTCCTCTGCA	ENSP00000392492.2:n.856-36_856-20delinsGC...
ENST00000550683.5:c.1420-36_1420-20delinsGCCTCCTCTCCTCTGCA	ENSP00000447884.1:n.1420-36_1420-20delins...
NM_000020.2:c.1378-36_1378-20delinsGCCTCCTCTCCTCTGCA , LRG_543t1:c.1378-36_1378-20delinsGCCTCCTCTCCTCTGCA	NP_000011.2:n.1378-36_1378-20delinsGCCTCC...
NM_001077401.1:c.1378-36_1378-20delinsGCCTCCTCTCCTCTGCA	NP_001070869.1:n.1378-36_1378-20delinsGCC...
XM_005269235.2:c.1378-36_1378-20delinsGCCTCCTCTCCTCTGCA	XP_005269292.1:n.1378-36_1378-20delinsGCC...
XM_011539008.1:c.1108-36_1108-20delinsGCCTCCTCTCCTCTGCA	XP_011537310.1:n.1108-36_1108-20delinsGCC...
XM_024449279.1:c.589-36_589-20delinsGCCTCCTCTCCTCTGCA	XP_024305047.1:n.589-36_589-20delinsGCCTC...
NM_000020.3:c.1378-36_1378-20delinsGCCTCCTCTCCTCTGCA MANE Select	NP_000011.2:n.1378-36_1378-20delinsGCCTCC...
NM_001077401.2:c.1378-36_1378-20delinsGCCTCCTCTCCTCTGCA	NP_001070869.1:n.1378-36_1378-20delinsGCC...