Canonical Allele Identifier: CA947669028

Gene: ACVRL1

Linked Data

• gnomAD v3: 12-51920931-T-TGGGGGGGAG
• gnomAD v4: 12-51920931-T-TGGGGGGGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920938_51920939insAGGGGGGGG , CM000674.2:g.51920938_51920939insAGGGGGGGG	GRCh38
NC_000012.11:g.52314722_52314723insAGGGGGGGG , CM000674.1:g.52314722_52314723insAGGGGGGGG	GRCh37
NC_000012.10:g.50600989_50600990insAGGGGGGGG	NCBI36
NG_009549.1:g.18521_18522insAGGGGGGGG , LRG_543:g.18521_18522insAGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*45_*46insAGGGGGGGG	ENSP00000455848.2:n.*45_*46insAGGGGGGGG
ENST00000388922.9:c.*45_*46insAGGGGGGGG MANE Select	ENSP00000373574.4:n.*45_*46insAGGGGGGGG
ENST00000388922.8:c.*45_*46insAGGGGGGGG	ENSP00000373574.4:n.*45_*46insAGGGGGGGG
ENST00000419526.6:c.*45_*46insAGGGGGGGG	ENSP00000392492.2:n.*45_*46insAGGGGGGGG
ENST00000550683.5:c.*45_*46insAGGGGGGGG	ENSP00000447884.1:n.*45_*46insAGGGGGGGG
NM_000020.2:c.*45_*46insAGGGGGGGG , LRG_543t1:c.*45_*46insAGGGGGGGG	NP_000011.2:n.*45_*46insAGGGGGGGG
NM_001077401.1:c.*45_*46insAGGGGGGGG	NP_001070869.1:n.*45_*46insAGGGGGGGG
XM_005269235.2:c.*45_*46insAGGGGGGGG	XP_005269292.1:n.*45_*46insAGGGGGGGG
XM_011539008.1:c.*45_*46insAGGGGGGGG	XP_011537310.1:n.*45_*46insAGGGGGGGG
XM_024449279.1:c.*45_*46insAGGGGGGGG	XP_024305047.1:n.*45_*46insAGGGGGGGG
NM_000020.3:c.*45_*46insAGGGGGGGG MANE Select	NP_000011.2:n.*45_*46insAGGGGGGGG
NM_001077401.2:c.*45_*46insAGGGGGGGG	NP_001070869.1:n.*45_*46insAGGGGGGGG