Canonical Allele Identifier: CA2036242414

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51921281_51921283delinsCCA , CM000674.2:g.51921281_51921283delinsCCA	GRCh38
NC_000012.11:g.52315065_52315067delinsCCA , CM000674.1:g.52315065_52315067delinsCCA	GRCh37
NC_000012.10:g.50601332_50601334delinsCCA	NCBI36
NG_009549.1:g.18864_18866delinsCCA , LRG_543:g.18864_18866delinsCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*388_*390delinsCCA	ENSP00000455848.2:n.*388_*390delinsCCA
ENST00000388922.9:c.*388_*390delinsCCA MANE Select	ENSP00000373574.4:n.*388_*390delinsCCA
ENST00000550683.5:c.*388_*390delinsCCA	ENSP00000447884.1:n.*388_*390delinsCCA
NM_000020.2:c.*388_*390delinsCCA , LRG_543t1:c.*388_*390delinsCCA	NP_000011.2:n.*388_*390delinsCCA
NM_001077401.1:c.*388_*390delinsCCA	NP_001070869.1:n.*388_*390delinsCCA
XM_005269235.2:c.*388_*390delinsCCA	XP_005269292.1:n.*388_*390delinsCCA
XM_011539008.1:c.*388_*390delinsCCA	XP_011537310.1:n.*388_*390delinsCCA
XM_024449279.1:c.*388_*390delinsCCA	XP_024305047.1:n.*388_*390delinsCCA
NM_000020.3:c.*388_*390delinsCCA MANE Select	NP_000011.2:n.*388_*390delinsCCA
NM_001077401.2:c.*388_*390delinsCCA	NP_001070869.1:n.*388_*390delinsCCA