Canonical Allele Identifier: CA2795983219
Gene: ACVRL1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51911972del , CM000674.2:g.51911972del GRCh38
NC_000012.11:g.52305756del , CM000674.1:g.52305756del GRCh37
NC_000012.10:g.50592023del NCBI36
NG_009549.1:g.9555del , LRG_543:g.9555del

Transcript Alleles

HGVS Amino-acid Change
ENST00000551576.6:c.-5-498del ENSP00000455848.2:n.-5-498del
ENST00000552678.2:c.-5-498del ENSP00000457394.2:n.-5-498del
ENST00000388922.9:c.-5-498del MANE Select ENSP00000373574.4:n.-5-498del
ENST00000388922.8:c.-5-498del ENSP00000373574.4:n.-5-498del
ENST00000551576.5:c.-5-498del ENSP00000455848.1:n.-5-498del
NM_000020.2:c.-5-498del , LRG_543t1:c.-5-498del NP_000011.2:n.-5-498del
XM_005269235.2:c.-5-498del XP_005269292.1:n.-5-498del
NM_000020.3:c.-5-498del MANE Select NP_000011.2:n.-5-498del
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