Canonical Allele Identifier: CA2795983823

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920922_51920923insAGGGGGG , CM000674.2:g.51920922_51920923insAGGGGGG	GRCh38
NC_000012.11:g.52314706_52314707insAGGGGGG , CM000674.1:g.52314706_52314707insAGGGGGG	GRCh37
NC_000012.10:g.50600973_50600974insAGGGGGG	NCBI36
NG_009549.1:g.18505_18506insAGGGGGG , LRG_543:g.18505_18506insAGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*29_*30insAGGGGGG	ENSP00000455848.2:n.*29_*30insAGGGGGG
ENST00000388922.9:c.*29_*30insAGGGGGG MANE Select	ENSP00000373574.4:n.*29_*30insAGGGGGG
ENST00000388922.8:c.*29_*30insAGGGGGG	ENSP00000373574.4:n.*29_*30insAGGGGGG
ENST00000419526.6:c.*29_*30insAGGGGGG	ENSP00000392492.2:n.*29_*30insAGGGGGG
ENST00000550683.5:c.*29_*30insAGGGGGG	ENSP00000447884.1:n.*29_*30insAGGGGGG
NM_000020.2:c.*29_*30insAGGGGGG , LRG_543t1:c.*29_*30insAGGGGGG	NP_000011.2:n.*29_*30insAGGGGGG
NM_001077401.1:c.*29_*30insAGGGGGG	NP_001070869.1:n.*29_*30insAGGGGGG
XM_005269235.2:c.*29_*30insAGGGGGG	XP_005269292.1:n.*29_*30insAGGGGGG
XM_011539008.1:c.*29_*30insAGGGGGG	XP_011537310.1:n.*29_*30insAGGGGGG
XM_024449279.1:c.*29_*30insAGGGGGG	XP_024305047.1:n.*29_*30insAGGGGGG
NM_000020.3:c.*29_*30insAGGGGGG MANE Select	NP_000011.2:n.*29_*30insAGGGGGG
NM_001077401.2:c.*29_*30insAGGGGGG	NP_001070869.1:n.*29_*30insAGGGGGG