Canonical Allele Identifier: CA2618858591

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51913462-T-TGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913465_51913466insGGGGGGG , CM000674.2:g.51913465_51913466insGGGGGGG	GRCh38
NC_000012.11:g.52307249_52307250insGGGGGGG , CM000674.1:g.52307249_52307250insGGGGGGG	GRCh37
NC_000012.10:g.50593516_50593517insGGGGGGG	NCBI36
NG_009549.1:g.11048_11049insGGGGGGG , LRG_543:g.11048_11049insGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+115_355+116insGGGGGGG	ENSP00000446724.2:n.355+115_355+116insGGGGGGG
ENST00000551576.6:c.314-94_314-93insGGGGGGG	ENSP00000455848.2:n.314-94_314-93insGGGGGGG
ENST00000552678.2:c.314-94_314-93insGGGGGGG	ENSP00000457394.2:n.314-94_314-93insGGGGGGG
ENST00000388922.9:c.314-94_314-93insGGGGGGG MANE Select	ENSP00000373574.4:n.314-94_314-93insGGGGGGG
ENST00000388922.8:c.314-94_314-93insGGGGGGG	ENSP00000373574.4:n.314-94_314-93insGGGGGGG
ENST00000419526.6:c.103+930_103+931insGGGGGGG	ENSP00000392492.2:n.103+930_103+931insGGGGGGG
ENST00000547400.5:c.355+115_355+116insGGGGGGG	ENSP00000446724.1:n.355+115_355+116insGGGGGGG
ENST00000550683.5:c.356-94_356-93insGGGGGGG	ENSP00000447884.1:n.356-94_356-93insGGGGGGG
NM_000020.2:c.314-94_314-93insGGGGGGG , LRG_543t1:c.314-94_314-93insGGGGGGG	NP_000011.2:n.314-94_314-93insGGGGGGG
NM_001077401.1:c.314-94_314-93insGGGGGGG	NP_001070869.1:n.314-94_314-93insGGGGGGG
XM_005269235.2:c.314-94_314-93insGGGGGGG	XP_005269292.1:n.314-94_314-93insGGGGGGG
XM_011539008.1:c.355+115_355+116insGGGGGGG	XP_011537310.1:n.355+115_355+116insGGGGGGG
XM_024449279.1:c.-376-94_-376-93insGGGGGGG	XP_024305047.1:n.-376-94_-376-93insGGGGGGG
NM_000020.3:c.314-94_314-93insGGGGGGG MANE Select	NP_000011.2:n.314-94_314-93insGGGGGGG
NM_001077401.2:c.314-94_314-93insGGGGGGG	NP_001070869.1:n.314-94_314-93insGGGGGGG