Canonical Allele Identifier: CA2618857870

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51913350-G-GGTAC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913353_51913356dup , CM000674.2:g.51913353_51913356dup	GRCh38
NC_000012.11:g.52307137_52307140dup , CM000674.1:g.52307137_52307140dup	GRCh37
NC_000012.10:g.50593404_50593407dup	NCBI36
NG_009549.1:g.10936_10939dup , LRG_543:g.10936_10939dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+3_355+6dup	ENSP00000446724.2:n.355+3_355+6dup
ENST00000551576.6:c.313+3_313+6dup	ENSP00000455848.2:n.313+3_313+6dup
ENST00000552678.2:c.313+3_313+6dup	ENSP00000457394.2:n.313+3_313+6dup
ENST00000388922.9:c.313+3_313+6dup MANE Select	ENSP00000373574.4:n.313+3_313+6dup
ENST00000388922.8:c.313+3_313+6dup	ENSP00000373574.4:n.313+3_313+6dup
ENST00000419526.6:c.103+818_103+821dup	ENSP00000392492.2:n.103+818_103+821dup
ENST00000547400.5:c.355+3_355+6dup	ENSP00000446724.1:n.355+3_355+6dup
ENST00000550683.5:c.355+3_355+6dup	ENSP00000447884.1:n.355+3_355+6dup
NM_000020.2:c.313+3_313+6dup , LRG_543t1:c.313+3_313+6dup	NP_000011.2:n.313+3_313+6dup
NM_001077401.1:c.313+3_313+6dup	NP_001070869.1:n.313+3_313+6dup
XM_005269235.2:c.313+3_313+6dup	XP_005269292.1:n.313+3_313+6dup
XM_011539008.1:c.355+3_355+6dup	XP_011537310.1:n.355+3_355+6dup
XM_024449279.1:c.-377+3_-377+6dup	XP_024305047.1:n.-377+3_-377+6dup
NM_000020.3:c.313+3_313+6dup MANE Select	NP_000011.2:n.313+3_313+6dup
NM_001077401.2:c.313+3_313+6dup	NP_001070869.1:n.313+3_313+6dup