Canonical Allele Identifier: CA2036241510

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920643_51920646delinsATCT , CM000674.2:g.51920643_51920646delinsATCT	GRCh38
NC_000012.11:g.52314427_52314430delinsATCT , CM000674.1:g.52314427_52314430delinsATCT	GRCh37
NC_000012.10:g.50600694_50600697delinsATCT	NCBI36
NG_009549.1:g.18226_18229delinsATCT , LRG_543:g.18226_18229delinsATCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1108-116_1108-113delinsATCT	ENSP00000446724.2:n.1108-116_1108-113deli...
ENST00000551576.6:c.1378-116_1378-113delinsATCT	ENSP00000455848.2:n.1378-116_1378-113deli...
ENST00000388922.9:c.1378-116_1378-113delinsATCT MANE Select	ENSP00000373574.4:n.1378-116_1378-113deli...
ENST00000388922.8:c.1378-116_1378-113delinsATCT	ENSP00000373574.4:n.1378-116_1378-113deli...
ENST00000419526.6:c.856-116_856-113delinsATCT	ENSP00000392492.2:n.856-116_856-113delins...
ENST00000550683.5:c.1420-116_1420-113delinsATCT	ENSP00000447884.1:n.1420-116_1420-113deli...
NM_000020.2:c.1378-116_1378-113delinsATCT , LRG_543t1:c.1378-116_1378-113delinsATCT	NP_000011.2:n.1378-116_1378-113delinsATCT...
NM_001077401.1:c.1378-116_1378-113delinsATCT	NP_001070869.1:n.1378-116_1378-113delinsA...
XM_005269235.2:c.1378-116_1378-113delinsATCT	XP_005269292.1:n.1378-116_1378-113delinsA...
XM_011539008.1:c.1108-116_1108-113delinsATCT	XP_011537310.1:n.1108-116_1108-113delinsA...
XM_024449279.1:c.589-116_589-113delinsATCT	XP_024305047.1:n.589-116_589-113delinsATC...
NM_000020.3:c.1378-116_1378-113delinsATCT MANE Select	NP_000011.2:n.1378-116_1378-113delinsATCT...
NM_001077401.2:c.1378-116_1378-113delinsATCT	NP_001070869.1:n.1378-116_1378-113delinsA...