Canonical Allele Identifier: CA2618860992

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51920939-T-TTGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920939_51920940insTGGGGGGGG , CM000674.2:g.51920939_51920940insTGGGGGGGG	GRCh38
NC_000012.11:g.52314723_52314724insTGGGGGGGG , CM000674.1:g.52314723_52314724insTGGGGGGGG	GRCh37
NC_000012.10:g.50600990_50600991insTGGGGGGGG	NCBI36
NG_009549.1:g.18522_18523insTGGGGGGGG , LRG_543:g.18522_18523insTGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*46_*47insTGGGGGGGG	ENSP00000455848.2:n.*46_*47insTGGGGGGGG
ENST00000388922.9:c.*46_*47insTGGGGGGGG MANE Select	ENSP00000373574.4:n.*46_*47insTGGGGGGGG
ENST00000388922.8:c.*46_*47insTGGGGGGGG	ENSP00000373574.4:n.*46_*47insTGGGGGGGG
ENST00000419526.6:c.*46_*47insTGGGGGGGG	ENSP00000392492.2:n.*46_*47insTGGGGGGGG
ENST00000550683.5:c.*46_*47insTGGGGGGGG	ENSP00000447884.1:n.*46_*47insTGGGGGGGG
NM_000020.2:c.*46_*47insTGGGGGGGG , LRG_543t1:c.*46_*47insTGGGGGGGG	NP_000011.2:n.*46_*47insTGGGGGGGG
NM_001077401.1:c.*46_*47insTGGGGGGGG	NP_001070869.1:n.*46_*47insTGGGGGGGG
XM_005269235.2:c.*46_*47insTGGGGGGGG	XP_005269292.1:n.*46_*47insTGGGGGGGG
XM_011539008.1:c.*46_*47insTGGGGGGGG	XP_011537310.1:n.*46_*47insTGGGGGGGG
XM_024449279.1:c.*46_*47insTGGGGGGGG	XP_024305047.1:n.*46_*47insTGGGGGGGG
NM_000020.3:c.*46_*47insTGGGGGGGG MANE Select	NP_000011.2:n.*46_*47insTGGGGGGGG
NM_001077401.2:c.*46_*47insTGGGGGGGG	NP_001070869.1:n.*46_*47insTGGGGGGGG