Canonical Allele Identifier: CA597072873
Gene: H19 HGNC NCBI
MRPL23 HGNC NCBI

Linked Data

gnomAD v2: 11-2021135-CG-C
MyVariant Identifiers: chr11:g.2021136del (hg19) chr11:g.1999906del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1999908del , CM000673.2:g.1999908del GRCh38
NC_000011.9:g.2021138del , CM000673.1:g.2021138del GRCh37
NC_000011.8:g.1977714del NCBI36
NG_016165.1:g.2930del

Transcript Alleles

HGVS Amino-acid change
NR_131224.1:n.249+1312del (H19)
XM_011520273.1:c.498-11633del (MRPL23) XP_011518575.1:n.498-11633del
XM_011520274.1:c.492-11633del (MRPL23) XP_011518576.1:n.492-11633del
XM_011520275.1:c.498-11633del (MRPL23) XP_011518577.1:n.498-11633del
XM_011520275.2:c.498-11633del (MRPL23) XP_011518577.1:n.498-11633del
NM_001400176.1:c.498-11633del (MRPL23) NP_001387105.1:n.498-11633del
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