Canonical Allele Identifier: CA2638157635

Gene: G6PC3

Linked Data

• gnomAD v4: 17-44075693-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075695del , CM000679.2:g.44075695del	GRCh38
NC_000017.10:g.42153063del , CM000679.1:g.42153063del	GRCh37
NC_000017.9:g.39508589del	NCBI36
NG_015818.1:g.9966del , LRG_182:g.9966del

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*530del	ENSP00000466983.1:n.*530del
ENST00000588558.6:c.*668del	ENSP00000467624.1:n.*668del
ENST00000590253.3:c.574del	ENSP00000465111.2:p.Leu192PhefsTer?
ENST00000593115.2:c.*714del	ENSP00000466821.1:n.*714del
ENST00000696383.1:c.348del	ENSP00000512593.1:p.Phe117SerfsTer20
ENST00000696384.1:c.*253del	ENSP00000512594.1:n.*253del
ENST00000696385.1:c.*411del	ENSP00000512595.1:n.*411del
ENST00000696386.1:c.376del	ENSP00000512596.1:p.Leu126PhefsTer?
ENST00000696387.1:c.*320del	ENSP00000512597.1:n.*320del
ENST00000696388.1:c.*539del	ENSP00000512598.1:n.*539del
ENST00000696389.1:c.*724del	ENSP00000512599.1:n.*724del
ENST00000696390.1:c.483del	ENSP00000512600.1:p.Phe162SerfsTer20
ENST00000696391.1:c.*549del	ENSP00000512601.1:n.*549del
ENST00000696392.1:c.693del	ENSP00000512602.1:p.Phe232SerfsTer20
ENST00000696393.1:c.693del	ENSP00000512603.1:p.Phe232SerfsTer20
ENST00000696405.1:c.677+244del	ENSP00000512607.1:n.677+244del
ENST00000269097.9:c.693del MANE Select	ENSP00000269097.3:p.Phe232SerfsTer20
ENST00000269097.8:c.693del	ENSP00000269097.3:p.Phe232SerfsTer20
ENST00000585361.5:c.*530del	ENSP00000466983.1:n.*530del
ENST00000588558.5:c.*668del	ENSP00000467624.1:n.*668del
ENST00000590253.2:c.195del
ENST00000590639.1:n.714del
ENST00000591696.1:c.585del	ENSP00000468677.1:p.Phe196SerfsTer20
NM_138387.3:c.693del , LRG_182t1:c.693del	NP_612396.1:p.Phe232SerfsTer20
NR_028581.1:n.1123del
NR_028582.1:n.988del
XM_006722179.2:c.574del	XP_006722242.1:p.Leu192PhefsTer?
XM_011525473.1:c.348del	XP_011523775.1:p.Phe117SerfsTer20
XM_011525474.1:c.348del	XP_011523776.1:p.Phe117SerfsTer20
NM_001319945.1:c.574del	NP_001306874.1:p.Leu192PhefsTer?
XM_011525473.3:c.348del	XP_011523775.1:p.Phe117SerfsTer20
XM_011525474.3:c.348del	XP_011523776.1:p.Phe117SerfsTer20
XM_017025335.2:c.348del	XP_016880824.1:p.Phe117SerfsTer20
NM_001319945.2:c.574del	NP_001306874.1:p.Leu192PhefsTer?
NR_028581.2:n.942del
NR_028582.2:n.807del
NM_001384165.1:c.348del	NP_001371094.1:p.Phe117SerfsTer20
NM_001384166.1:c.348del	NP_001371095.1:p.Phe117SerfsTer20
NM_001384167.1:c.348del	NP_001371096.1:p.Phe117SerfsTer20
NM_001384168.1:c.348del	NP_001371097.1:p.Phe117SerfsTer20
NM_138387.4:c.693del MANE Select	NP_612396.1:p.Phe232SerfsTer20