Canonical Allele Identifier: CA605053108

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1592228471
• gnomAD v2: 12-52314708-A-AGGGAGCCGGG
• MyVariant Identifiers: chr12:g.52314709_52314710insGGAGCCGGGG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920927_51920928insAGCCGGGGGG , CM000674.2:g.51920927_51920928insAGCCGGGGGG	GRCh38
NC_000012.11:g.52314711_52314712insAGCCGGGGGG , CM000674.1:g.52314711_52314712insAGCCGGGGGG	GRCh37
NC_000012.10:g.50600978_50600979insAGCCGGGGGG	NCBI36
NG_009549.1:g.18510_18511insAGCCGGGGGG , LRG_543:g.18510_18511insAGCCGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*34_*35insAGCCGGGGGG	ENSP00000455848.2:n.*34_*35insAGCCGGGGGG
ENST00000388922.9:c.*34_*35insAGCCGGGGGG MANE Select	ENSP00000373574.4:n.*34_*35insAGCCGGGGGG
ENST00000388922.8:c.*34_*35insAGCCGGGGGG	ENSP00000373574.4:n.*34_*35insAGCCGGGGGG
ENST00000419526.6:c.*34_*35insAGCCGGGGGG	ENSP00000392492.2:n.*34_*35insAGCCGGGGGG
ENST00000550683.5:c.*34_*35insAGCCGGGGGG	ENSP00000447884.1:n.*34_*35insAGCCGGGGGG
NM_000020.2:c.*34_*35insAGCCGGGGGG , LRG_543t1:c.*34_*35insAGCCGGGGGG	NP_000011.2:n.*34_*35insAGCCGGGGGG
NM_001077401.1:c.*34_*35insAGCCGGGGGG	NP_001070869.1:n.*34_*35insAGCCGGGGGG
XM_005269235.2:c.*34_*35insAGCCGGGGGG	XP_005269292.1:n.*34_*35insAGCCGGGGGG
XM_011539008.1:c.*34_*35insAGCCGGGGGG	XP_011537310.1:n.*34_*35insAGCCGGGGGG
XM_024449279.1:c.*34_*35insAGCCGGGGGG	XP_024305047.1:n.*34_*35insAGCCGGGGGG
NM_000020.3:c.*34_*35insAGCCGGGGGG MANE Select	NP_000011.2:n.*34_*35insAGCCGGGGGG
NM_001077401.2:c.*34_*35insAGCCGGGGGG	NP_001070869.1:n.*34_*35insAGCCGGGGGG