Canonical Allele Identifier: CA2260692820
Gene: G6PC1 HGNC NCBI

Linked Data

dbSNP Id: rs2056020593
gnomAD v4: 17-42900859-GGT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42900861_42900862del , CM000679.2:g.42900861_42900862del GRCh38
NC_000017.10:g.41052878_41052879del , CM000679.1:g.41052878_41052879del GRCh37
NC_000017.9:g.38306404_38306405del NCBI36
NG_011808.1:g.5064_5065del , LRG_147:g.5064_5065del

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.-16_-15del MANE Select ENSP00000253801.1:n.-16_-15del
ENST00000253801.6:c.-16_-15del ENSP00000253801.1:n.-16_-15del
ENST00000585489.1:c.-16_-15del ENSP00000466202.1:n.-16_-15del
ENST00000588481.1:n.50_51del
ENST00000592383.5:c.-16_-15del ENSP00000465958.1:n.-16_-15del
NM_000151.3:c.-16_-15del NP_000142.2:n.-16_-15del
NM_001270397.1:c.-16_-15del NP_001257326.1:n.-16_-15del
NM_000151.4:c.-16_-15del MANE Select NP_000142.2:n.-16_-15del
NM_001270397.2:c.-16_-15del NP_001257326.1:n.-16_-15del
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