Canonical Allele Identifier: CA2618860964

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51920939-T-TGGGGTTGGGGGGGGGGGGGGGGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920943_51920944insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG , CM000674.2:g.51920943_51920944insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	GRCh38
NC_000012.11:g.52314727_52314728insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG , CM000674.1:g.52314727_52314728insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	GRCh37
NC_000012.10:g.50600994_50600995insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	NCBI36
NG_009549.1:g.18526_18527insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG , LRG_543:g.18526_18527insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000455848.2:n.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
ENST00000388922.9:c.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG MANE Select	ENSP00000373574.4:n.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
ENST00000388922.8:c.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000373574.4:n.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
ENST00000419526.6:c.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000392492.2:n.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
ENST00000550683.5:c.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000447884.1:n.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG...
NM_000020.2:c.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG , LRG_543t1:c.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	NP_000011.2:n.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
NM_001077401.1:c.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	NP_001070869.1:n.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
XM_005269235.2:c.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	XP_005269292.1:n.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
XM_011539008.1:c.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	XP_011537310.1:n.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
XM_024449279.1:c.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	XP_024305047.1:n.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
NM_000020.3:c.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG MANE Select	NP_000011.2:n.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
NM_001077401.2:c.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	NP_001070869.1:n.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG