Canonical Allele Identifier: CA689762868
Gene: ACVRL1 HGNC NCBI

Linked Data

dbSNP Id: rs1190522432
gnomAD v3: 12-51912041-T-TG
gnomAD v4: 12-51912041-T-TG
MyVariant Identifiers: chr12:g.52305825_52305826insG (hg19) chr12:g.51912041_51912042insG (hg38)
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Genomic Alleles

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

Transcript Alleles

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