Canonical Allele Identifier: CA2695216729

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920812_51920813insCACCCGCT , CM000674.2:g.51920812_51920813insCACCCGCT	GRCh38
NC_000012.11:g.52314596_52314597insCACCCGCT , CM000674.1:g.52314596_52314597insCACCCGCT	GRCh37
NC_000012.10:g.50600863_50600864insCACCCGCT	NCBI36
NG_009549.1:g.18395_18396insCACCCGCT , LRG_543:g.18395_18396insCACCCGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1161_1162insCACCCGCT	ENSP00000446724.2:p.Ala388HisfsTer27
ENST00000551576.6:c.1431_1432insCACCCGCT	ENSP00000455848.2:p.Ala478HisfsTer27
ENST00000388922.9:c.1431_1432insCACCCGCT MANE Select	ENSP00000373574.4:p.Ala478HisfsTer27
ENST00000388922.8:c.1431_1432insCACCCGCT	ENSP00000373574.4:p.Ala478HisfsTer27
ENST00000419526.6:c.909_910insCACCCGCT	ENSP00000392492.2:p.Ala304HisfsTer27
ENST00000550683.5:c.1473_1474insCACCCGCT	ENSP00000447884.1:p.Ala492HisfsTer27
NM_000020.2:c.1431_1432insCACCCGCT , LRG_543t1:c.1431_1432insCACCCGCT	NP_000011.2:p.Ala478HisfsTer27
NM_001077401.1:c.1431_1432insCACCCGCT	NP_001070869.1:p.Ala478HisfsTer27
XM_005269235.2:c.1431_1432insCACCCGCT	XP_005269292.1:p.Ala478HisfsTer27
XM_011539008.1:c.1161_1162insCACCCGCT	XP_011537310.1:p.Ala388HisfsTer27
XM_024449279.1:c.642_643insCACCCGCT	XP_024305047.1:p.Ala215HisfsTer27
NM_000020.3:c.1431_1432insCACCCGCT MANE Select	NP_000011.2:p.Ala478HisfsTer27
NM_001077401.2:c.1431_1432insCACCCGCT	NP_001070869.1:p.Ala478HisfsTer27