Canonical Allele Identifier: CA689762866
Gene: ACVRL1 HGNC NCBI

Linked Data

dbSNP Id: rs1190522432
gnomAD v3: 12-51912041-TG-T
gnomAD v4: 12-51912041-TG-T
MyVariant Identifiers: chr12:g.52305826del (hg19) chr12:g.51912042del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51912048del , CM000674.2:g.51912048del GRCh38
NC_000012.11:g.52305832del , CM000674.1:g.52305832del GRCh37
NC_000012.10:g.50592099del NCBI36
NG_009549.1:g.9631del , LRG_543:g.9631del

Transcript Alleles

HGVS Amino-acid Change
ENST00000551576.6:c.-5-422del ENSP00000455848.2:n.-5-422del
ENST00000552678.2:c.-5-422del ENSP00000457394.2:n.-5-422del
ENST00000388922.9:c.-5-422del MANE Select ENSP00000373574.4:n.-5-422del
ENST00000388922.8:c.-5-422del ENSP00000373574.4:n.-5-422del
ENST00000551576.5:c.-5-422del ENSP00000455848.1:n.-5-422del
NM_000020.2:c.-5-422del , LRG_543t1:c.-5-422del NP_000011.2:n.-5-422del
XM_005269235.2:c.-5-422del XP_005269292.1:n.-5-422del
NM_000020.3:c.-5-422del MANE Select NP_000011.2:n.-5-422del
Search 100 bp 5'
Search 100 bp 3'