Canonical Allele Identifier: CA8587711

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 2074466
• ClinVar RCV Id: RCV002982232
• dbSNP Id: rs772035505
• ExAC: 17:41063436 CGTT / C
• gnomAD v2: 17-41063436-CGTT-C
• gnomAD v3: 17-42911419-CGTT-C
• gnomAD v4: 17-42911419-CGTT-C
• MyVariant Identifiers: chr17:g.41063437_41063439del (hg19) ; chr17:g.42911420_42911422del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42911422_42911424del , CM000679.2:g.42911422_42911424del	GRCh38
NC_000017.10:g.41063439_41063441del , CM000679.1:g.41063439_41063441del	GRCh37
NC_000017.9:g.38316965_38316967del	NCBI36
NG_011808.1:g.15625_15627del , LRG_147:g.15625_15627del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.1070_1072del MANE Select	ENSP00000253801.1:p.Leu357Ter
ENST00000253801.6:c.1070_1072del	ENSP00000253801.1:p.Leu357Ter
ENST00000585489.1:c.*462_*464del	ENSP00000466202.1:n.*462_*464del
NM_000151.3:c.1070_1072del	NP_000142.2:p.Leu357Ter
NM_001270397.1:c.*462_*464del	NP_001257326.1:n.*462_*464del
NM_000151.4:c.1070_1072del MANE Select	NP_000142.2:p.Leu357Ter
NM_001270397.2:c.*462_*464del	NP_001257326.1:n.*462_*464del