Canonical Allele Identifier: CA8587726

Gene: G6PC1

Linked Data

• dbSNP Id: rs775240201
• ExAC: 17:41063491 TGAG / T
• gnomAD v2: 17-41063491-TGAG-T
• gnomAD v4: 17-42911474-TGAG-T
• MyVariant Identifiers: chr17:g.41063492_41063494del (hg19) ; chr17:g.42911475_42911477del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42911480_42911482del , CM000679.2:g.42911480_42911482del	GRCh38
NC_000017.10:g.41063497_41063499del , CM000679.1:g.41063497_41063499del	GRCh37
NC_000017.9:g.38317023_38317025del	NCBI36
NG_011808.1:g.15683_15685del , LRG_147:g.15683_15685del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.*54_*56del MANE Select	ENSP00000253801.1:n.*54_*56del
ENST00000253801.6:c.*54_*56del	ENSP00000253801.1:n.*54_*56del
ENST00000585489.1:c.*520_*522del	ENSP00000466202.1:n.*520_*522del
NM_000151.3:c.*54_*56del	NP_000142.2:n.*54_*56del
NM_001270397.1:c.*520_*522del	NP_001257326.1:n.*520_*522del
NM_000151.4:c.*54_*56del MANE Select	NP_000142.2:n.*54_*56del
NM_001270397.2:c.*520_*522del	NP_001257326.1:n.*520_*522del