Canonical Allele Identifier: CA2036242068

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920929_51920931delinsGCT , CM000674.2:g.51920929_51920931delinsGCT	GRCh38
NC_000012.11:g.52314713_52314715delinsGCT , CM000674.1:g.52314713_52314715delinsGCT	GRCh37
NC_000012.10:g.50600980_50600982delinsGCT	NCBI36
NG_009549.1:g.18512_18514delinsGCT , LRG_543:g.18512_18514delinsGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*36_*38delinsGCT	ENSP00000455848.2:n.*36_*38delinsGCT
ENST00000388922.9:c.*36_*38delinsGCT MANE Select	ENSP00000373574.4:n.*36_*38delinsGCT
ENST00000388922.8:c.*36_*38delinsGCT	ENSP00000373574.4:n.*36_*38delinsGCT
ENST00000419526.6:c.*36_*38delinsGCT	ENSP00000392492.2:n.*36_*38delinsGCT
ENST00000550683.5:c.*36_*38delinsGCT	ENSP00000447884.1:n.*36_*38delinsGCT
NM_000020.2:c.*36_*38delinsGCT , LRG_543t1:c.*36_*38delinsGCT	NP_000011.2:n.*36_*38delinsGCT
NM_001077401.1:c.*36_*38delinsGCT	NP_001070869.1:n.*36_*38delinsGCT
XM_005269235.2:c.*36_*38delinsGCT	XP_005269292.1:n.*36_*38delinsGCT
XM_011539008.1:c.*36_*38delinsGCT	XP_011537310.1:n.*36_*38delinsGCT
XM_024449279.1:c.*36_*38delinsGCT	XP_024305047.1:n.*36_*38delinsGCT
NM_000020.3:c.*36_*38delinsGCT MANE Select	NP_000011.2:n.*36_*38delinsGCT
NM_001077401.2:c.*36_*38delinsGCT	NP_001070869.1:n.*36_*38delinsGCT