Canonical Allele Identifier: CA2618859616

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51913780-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913783_51913784del , CM000674.2:g.51913783_51913784del	GRCh38
NC_000012.11:g.52307567_52307568del , CM000674.1:g.52307567_52307568del	GRCh37
NC_000012.10:g.50593834_50593835del	NCBI36
NG_009549.1:g.11366_11367del , LRG_543:g.11366_11367del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+433_355+434del	ENSP00000446724.2:n.355+433_355+434del
ENST00000551576.6:c.525+13_525+14del	ENSP00000455848.2:n.525+13_525+14del
ENST00000552678.2:c.525+13_525+14del	ENSP00000457394.2:n.525+13_525+14del
ENST00000388922.9:c.525+13_525+14del MANE Select	ENSP00000373574.4:n.525+13_525+14del
ENST00000388922.8:c.525+13_525+14del	ENSP00000373574.4:n.525+13_525+14del
ENST00000419526.6:c.104-656_104-655del	ENSP00000392492.2:n.104-656_104-655del
ENST00000547400.5:c.355+433_355+434del	ENSP00000446724.1:n.355+433_355+434del
ENST00000550683.5:c.567+13_567+14del	ENSP00000447884.1:n.567+13_567+14del
NM_000020.2:c.525+13_525+14del , LRG_543t1:c.525+13_525+14del	NP_000011.2:n.525+13_525+14del
NM_001077401.1:c.525+13_525+14del	NP_001070869.1:n.525+13_525+14del
XM_005269235.2:c.525+13_525+14del	XP_005269292.1:n.525+13_525+14del
XM_011539008.1:c.355+433_355+434del	XP_011537310.1:n.355+433_355+434del
XM_024449279.1:c.-165+13_-165+14del	XP_024305047.1:n.-165+13_-165+14del
NM_000020.3:c.525+13_525+14del MANE Select	NP_000011.2:n.525+13_525+14del
NM_001077401.2:c.525+13_525+14del	NP_001070869.1:n.525+13_525+14del