Canonical Allele Identifier: CA2638041781
Gene: G6PC1 HGNC NCBI

Linked Data

gnomAD v4: 17-42911416-AGTC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911419_42911421del , CM000679.2:g.42911419_42911421del GRCh38
NC_000017.10:g.41063436_41063438del , CM000679.1:g.41063436_41063438del GRCh37
NC_000017.9:g.38316962_38316964del NCBI36
NG_011808.1:g.15622_15624del , LRG_147:g.15622_15624del

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.1067_1069del MANE Select ENSP00000253801.1:p.Ser356del
ENST00000253801.6:c.1067_1069del ENSP00000253801.1:p.Ser356del
ENST00000585489.1:c.*459_*461del ENSP00000466202.1:n.*459_*461del
NM_000151.3:c.1067_1069del NP_000142.2:p.Ser356del
NM_001270397.1:c.*459_*461del NP_001257326.1:n.*459_*461del
NM_000151.4:c.1067_1069del MANE Select NP_000142.2:p.Ser356del
NM_001270397.2:c.*459_*461del NP_001257326.1:n.*459_*461del
Search 100 bp 5'
Search 100 bp 3'