Canonical Allele Identifier: CA2638039656
Gene: G6PC1 HGNC NCBI

Linked Data

gnomAD v4: 17-42901063-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42901066del , CM000679.2:g.42901066del GRCh38
NC_000017.10:g.41053083del , CM000679.1:g.41053083del GRCh37
NC_000017.9:g.38306609del NCBI36
NG_011808.1:g.5269del , LRG_147:g.5269del

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.190del MANE Select ENSP00000253801.1:p.Val64Ter
ENST00000253801.6:c.190del ENSP00000253801.1:p.Val64Ter
ENST00000585489.1:c.190del ENSP00000466202.1:p.Val64Ter
ENST00000588481.1:n.255del
ENST00000592383.5:c.190del ENSP00000465958.1:p.Val64Ter
NM_000151.3:c.190del NP_000142.2:p.Val64Ter
NM_001270397.1:c.190del NP_001257326.1:p.Val64Ter
NM_000151.4:c.190del MANE Select NP_000142.2:p.Val64Ter
NM_001270397.2:c.190del NP_001257326.1:p.Val64Ter
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