Canonical Allele Identifier: CA2036265699

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912001_51912021delinsGCGAAGACAGGAGCCTGTTTA , CM000674.2:g.51912001_51912021delinsGCGAAGACAGGAGCCTGTTTA	GRCh38
NC_000012.11:g.52305785_52305805delinsGCGAAGACAGGAGCCTGTTTA , CM000674.1:g.52305785_52305805delinsGCGAAGACAGGAGCCTGTTTA	GRCh37
NC_000012.10:g.50592052_50592072delinsGCGAAGACAGGAGCCTGTTTA	NCBI36
NG_009549.1:g.9584_9604delinsGCGAAGACAGGAGCCTGTTTA , LRG_543:g.9584_9604delinsGCGAAGACAGGAGCCTGTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.-5-469_-5-449delinsGCGAAGACAGGAGCCTGTTTA	ENSP00000455848.2:n.-5-469_-5-449delinsGCGAAGACAGGAGCCTGTTTA
ENST00000552678.2:c.-5-469_-5-449delinsGCGAAGACAGGAGCCTGTTTA	ENSP00000457394.2:n.-5-469_-5-449delinsGCGAAGACAGGAGCCTGTTTA
ENST00000388922.9:c.-5-469_-5-449delinsGCGAAGACAGGAGCCTGTTTA MANE Select	ENSP00000373574.4:n.-5-469_-5-449delinsGCGAAGACAGGAGCCTGTTTA
ENST00000388922.8:c.-5-469_-5-449delinsGCGAAGACAGGAGCCTGTTTA	ENSP00000373574.4:n.-5-469_-5-449delinsGCGAAGACAGGAGCCTGTTTA
ENST00000551576.5:c.-5-469_-5-449delinsGCGAAGACAGGAGCCTGTTTA	ENSP00000455848.1:n.-5-469_-5-449delinsGCGAAGACAGGAGCCTGTTTA
NM_000020.2:c.-5-469_-5-449delinsGCGAAGACAGGAGCCTGTTTA , LRG_543t1:c.-5-469_-5-449delinsGCGAAGACAGGAGCCTGTTTA	NP_000011.2:n.-5-469_-5-449delinsGCGAAGACAGGAGCCTGTTTA
XM_005269235.2:c.-5-469_-5-449delinsGCGAAGACAGGAGCCTGTTTA	XP_005269292.1:n.-5-469_-5-449delinsGCGAAGACAGGAGCCTGTTTA
NM_000020.3:c.-5-469_-5-449delinsGCGAAGACAGGAGCCTGTTTA MANE Select	NP_000011.2:n.-5-469_-5-449delinsGCGAAGACAGGAGCCTGTTTA