Canonical Allele Identifier: CA2618864397

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51921109-T-TGACGCCTGGCTCTCTCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51921110_51921128dup , CM000674.2:g.51921110_51921128dup	GRCh38
NC_000012.11:g.52314894_52314912dup , CM000674.1:g.52314894_52314912dup	GRCh37
NC_000012.10:g.50601161_50601179dup	NCBI36
NG_009549.1:g.18693_18711dup , LRG_543:g.18693_18711dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*217_*235dup	ENSP00000455848.2:n.*217_*235dup
ENST00000388922.9:c.*217_*235dup MANE Select	ENSP00000373574.4:n.*217_*235dup
ENST00000419526.6:c.*217_*235dup	ENSP00000392492.2:n.*217_*235dup
ENST00000550683.5:c.*217_*235dup	ENSP00000447884.1:n.*217_*235dup
NM_000020.2:c.*217_*235dup , LRG_543t1:c.*217_*235dup	NP_000011.2:n.*217_*235dup
NM_001077401.1:c.*217_*235dup	NP_001070869.1:n.*217_*235dup
XM_005269235.2:c.*217_*235dup	XP_005269292.1:n.*217_*235dup
XM_011539008.1:c.*217_*235dup	XP_011537310.1:n.*217_*235dup
XM_024449279.1:c.*217_*235dup	XP_024305047.1:n.*217_*235dup
NM_000020.3:c.*217_*235dup MANE Select	NP_000011.2:n.*217_*235dup
NM_001077401.2:c.*217_*235dup	NP_001070869.1:n.*217_*235dup