Canonical Allele Identifier: CA2618855716
Gene: ACVRL1 HGNC NCBI

Linked Data

gnomAD v4: 12-51912247-GCTCT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51912249_51912252del , CM000674.2:g.51912249_51912252del GRCh38
NC_000012.11:g.52306033_52306036del , CM000674.1:g.52306033_52306036del GRCh37
NC_000012.10:g.50592300_50592303del NCBI36
NG_009549.1:g.9832_9835del , LRG_543:g.9832_9835del

Transcript Alleles

HGVS Amino-acid Change
ENST00000551576.6:c.-5-221_-5-218del ENSP00000455848.2:n.-5-221_-5-218del
ENST00000552678.2:c.-5-221_-5-218del ENSP00000457394.2:n.-5-221_-5-218del
ENST00000388922.9:c.-5-221_-5-218del MANE Select ENSP00000373574.4:n.-5-221_-5-218del
ENST00000388922.8:c.-5-221_-5-218del ENSP00000373574.4:n.-5-221_-5-218del
ENST00000551576.5:c.-5-221_-5-218del ENSP00000455848.1:n.-5-221_-5-218del
NM_000020.2:c.-5-221_-5-218del , LRG_543t1:c.-5-221_-5-218del NP_000011.2:n.-5-221_-5-218del
XM_005269235.2:c.-5-221_-5-218del XP_005269292.1:n.-5-221_-5-218del
NM_000020.3:c.-5-221_-5-218del MANE Select NP_000011.2:n.-5-221_-5-218del
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