Canonical Allele Identifier: CA2618861025

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51920939-T-TGGGTGGTGGGGGGGGGGGGGGGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920942_51920943insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG , CM000674.2:g.51920942_51920943insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	GRCh38
NC_000012.11:g.52314726_52314727insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG , CM000674.1:g.52314726_52314727insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	GRCh37
NC_000012.10:g.50600993_50600994insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	NCBI36
NG_009549.1:g.18525_18526insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG , LRG_543:g.18525_18526insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*49_*50insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000455848.2:n.*49_*50insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG...
ENST00000388922.9:c.*49_*50insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG MANE Select	ENSP00000373574.4:n.*49_*50insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG...
ENST00000388922.8:c.*49_*50insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000373574.4:n.*49_*50insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG...
ENST00000419526.6:c.*49_*50insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000392492.2:n.*49_*50insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG...
ENST00000550683.5:c.*49_*50insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000447884.1:n.*49_*50insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG...
NM_000020.2:c.*49_*50insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG , LRG_543t1:c.*49_*50insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	NP_000011.2:n.*49_*50insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
NM_001077401.1:c.*49_*50insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	NP_001070869.1:n.*49_*50insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
XM_005269235.2:c.*49_*50insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	XP_005269292.1:n.*49_*50insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
XM_011539008.1:c.*49_*50insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	XP_011537310.1:n.*49_*50insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
XM_024449279.1:c.*49_*50insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	XP_024305047.1:n.*49_*50insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
NM_000020.3:c.*49_*50insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG MANE Select	NP_000011.2:n.*49_*50insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
NM_001077401.2:c.*49_*50insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	NP_001070869.1:n.*49_*50insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG