Canonical Allele Identifier: CA2618858304

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51913444-T-TGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913449_51913450insGGGGGG , CM000674.2:g.51913449_51913450insGGGGGG	GRCh38
NC_000012.11:g.52307233_52307234insGGGGGG , CM000674.1:g.52307233_52307234insGGGGGG	GRCh37
NC_000012.10:g.50593500_50593501insGGGGGG	NCBI36
NG_009549.1:g.11032_11033insGGGGGG , LRG_543:g.11032_11033insGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+99_355+100insGGGGGG	ENSP00000446724.2:n.355+99_355+100insGGGGGG
ENST00000551576.6:c.313+99_313+100insGGGGGG	ENSP00000455848.2:n.313+99_313+100insGGGGGG
ENST00000552678.2:c.313+99_313+100insGGGGGG	ENSP00000457394.2:n.313+99_313+100insGGGGGG
ENST00000388922.9:c.313+99_313+100insGGGGGG MANE Select	ENSP00000373574.4:n.313+99_313+100insGGGGGG
ENST00000388922.8:c.313+99_313+100insGGGGGG	ENSP00000373574.4:n.313+99_313+100insGGGGGG
ENST00000419526.6:c.103+914_103+915insGGGGGG	ENSP00000392492.2:n.103+914_103+915insGGGGGG
ENST00000547400.5:c.355+99_355+100insGGGGGG	ENSP00000446724.1:n.355+99_355+100insGGGGGG
ENST00000550683.5:c.355+99_355+100insGGGGGG	ENSP00000447884.1:n.355+99_355+100insGGGGGG
NM_000020.2:c.313+99_313+100insGGGGGG , LRG_543t1:c.313+99_313+100insGGGGGG	NP_000011.2:n.313+99_313+100insGGGGGG
NM_001077401.1:c.313+99_313+100insGGGGGG	NP_001070869.1:n.313+99_313+100insGGGGGG
XM_005269235.2:c.313+99_313+100insGGGGGG	XP_005269292.1:n.313+99_313+100insGGGGGG
XM_011539008.1:c.355+99_355+100insGGGGGG	XP_011537310.1:n.355+99_355+100insGGGGGG
XM_024449279.1:c.-377+99_-377+100insGGGGGG	XP_024305047.1:n.-377+99_-377+100insGGGGGG
NM_000020.3:c.313+99_313+100insGGGGGG MANE Select	NP_000011.2:n.313+99_313+100insGGGGGG
NM_001077401.2:c.313+99_313+100insGGGGGG	NP_001070869.1:n.313+99_313+100insGGGGGG