Canonical Allele Identifier: CA2036241920

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 982452
• ClinVar RCV Id: RCV001262031 ; RCV002393673 ; RCV003236885
• dbSNP Id: rs1940959480
• gnomAD v4: 12-51920836-CAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920841_51920843del , CM000674.2:g.51920841_51920843del	GRCh38
NC_000012.11:g.52314625_52314627del , CM000674.1:g.52314625_52314627del	GRCh37
NC_000012.10:g.50600892_50600894del	NCBI36
NG_009549.1:g.18424_18426del , LRG_543:g.18424_18426del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1190_1192del	ENSP00000446724.2:p.Lys397del
ENST00000551576.6:c.1460_1462del	ENSP00000455848.2:p.Lys487del
ENST00000388922.9:c.1460_1462del MANE Select	ENSP00000373574.4:p.Lys487del
ENST00000388922.8:c.1460_1462del	ENSP00000373574.4:p.Lys487del
ENST00000419526.6:c.938_940del	ENSP00000392492.2:p.Lys313del
ENST00000550683.5:c.1502_1504del	ENSP00000447884.1:p.Lys501del
NM_000020.2:c.1460_1462del , LRG_543t1:c.1460_1462del	NP_000011.2:p.Lys487del
NM_001077401.1:c.1460_1462del	NP_001070869.1:p.Lys487del
XM_005269235.2:c.1460_1462del	XP_005269292.1:p.Lys487del
XM_011539008.1:c.1190_1192del	XP_011537310.1:p.Lys397del
XM_024449279.1:c.671_673del	XP_024305047.1:p.Lys224del
NM_000020.3:c.1460_1462del MANE Select	NP_000011.2:p.Lys487del
NM_001077401.2:c.1460_1462del	NP_001070869.1:p.Lys487del