Canonical Allele Identifier: CA2618855662
Gene: ACVRL1 HGNC NCBI

Linked Data

gnomAD v4: 12-51912209-AGCT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51912210_51912212del , CM000674.2:g.51912210_51912212del GRCh38
NC_000012.11:g.52305994_52305996del , CM000674.1:g.52305994_52305996del GRCh37
NC_000012.10:g.50592261_50592263del NCBI36
NG_009549.1:g.9793_9795del , LRG_543:g.9793_9795del

Transcript Alleles

HGVS Amino-acid Change
ENST00000551576.6:c.-5-260_-5-258del ENSP00000455848.2:n.-5-260_-5-258del
ENST00000552678.2:c.-5-260_-5-258del ENSP00000457394.2:n.-5-260_-5-258del
ENST00000388922.9:c.-5-260_-5-258del MANE Select ENSP00000373574.4:n.-5-260_-5-258del
ENST00000388922.8:c.-5-260_-5-258del ENSP00000373574.4:n.-5-260_-5-258del
ENST00000551576.5:c.-5-260_-5-258del ENSP00000455848.1:n.-5-260_-5-258del
NM_000020.2:c.-5-260_-5-258del , LRG_543t1:c.-5-260_-5-258del NP_000011.2:n.-5-260_-5-258del
XM_005269235.2:c.-5-260_-5-258del XP_005269292.1:n.-5-260_-5-258del
NM_000020.3:c.-5-260_-5-258del MANE Select NP_000011.2:n.-5-260_-5-258del
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