Canonical Allele Identifier: CA2036242132

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920938_51920939delinsGT , CM000674.2:g.51920938_51920939delinsGT	GRCh38
NC_000012.11:g.52314722_52314723delinsGT , CM000674.1:g.52314722_52314723delinsGT	GRCh37
NC_000012.10:g.50600989_50600990delinsGT	NCBI36
NG_009549.1:g.18521_18522delinsGT , LRG_543:g.18521_18522delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*45_*46delinsGT	ENSP00000455848.2:n.*45_*46delinsGT
ENST00000388922.9:c.*45_*46delinsGT MANE Select	ENSP00000373574.4:n.*45_*46delinsGT
ENST00000388922.8:c.*45_*46delinsGT	ENSP00000373574.4:n.*45_*46delinsGT
ENST00000419526.6:c.*45_*46delinsGT	ENSP00000392492.2:n.*45_*46delinsGT
ENST00000550683.5:c.*45_*46delinsGT	ENSP00000447884.1:n.*45_*46delinsGT
NM_000020.2:c.*45_*46delinsGT , LRG_543t1:c.*45_*46delinsGT	NP_000011.2:n.*45_*46delinsGT
NM_001077401.1:c.*45_*46delinsGT	NP_001070869.1:n.*45_*46delinsGT
XM_005269235.2:c.*45_*46delinsGT	XP_005269292.1:n.*45_*46delinsGT
XM_011539008.1:c.*45_*46delinsGT	XP_011537310.1:n.*45_*46delinsGT
XM_024449279.1:c.*45_*46delinsGT	XP_024305047.1:n.*45_*46delinsGT
NM_000020.3:c.*45_*46delinsGT MANE Select	NP_000011.2:n.*45_*46delinsGT
NM_001077401.2:c.*45_*46delinsGT	NP_001070869.1:n.*45_*46delinsGT