Canonical Allele Identifier: CA2036241920
Gene: ACVRL1 HGNC NCBI

Linked Data

dbSNP Id: rs1940959480

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