Canonical Allele Identifier: CA2638157758

Gene: G6PC3

Linked Data

• gnomAD v4: 17-44075750-TCCCTGAGCCGTGACTCAGGGGCTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075756_44075779del , CM000679.2:g.44075756_44075779del	GRCh38
NC_000017.10:g.42153124_42153147del , CM000679.1:g.42153124_42153147del	GRCh37
NC_000017.9:g.39508650_39508673del	NCBI36
NG_015818.1:g.10027_10050del , LRG_182:g.10027_10050del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*591_*614del	ENSP00000466983.1:n.*591_*614del
ENST00000588558.6:c.*729_*752del	ENSP00000467624.1:n.*729_*752del
ENST00000590253.3:c.*47_*70del	ENSP00000465111.2:n.*47_*70del
ENST00000593115.2:c.*775_*798del	ENSP00000466821.1:n.*775_*798del
ENST00000696383.1:c.409_432del	ENSP00000512593.1:p.Ser137_Leu144del
ENST00000696384.1:c.*314_*337del	ENSP00000512594.1:n.*314_*337del
ENST00000696385.1:c.*472_*495del	ENSP00000512595.1:n.*472_*495del
ENST00000696386.1:c.*47_*70del	ENSP00000512596.1:n.*47_*70del
ENST00000696387.1:c.*381_*404del	ENSP00000512597.1:n.*381_*404del
ENST00000696388.1:c.*600_*623del	ENSP00000512598.1:n.*600_*623del
ENST00000696389.1:c.*785_*808del	ENSP00000512599.1:n.*785_*808del
ENST00000696390.1:c.544_567del	ENSP00000512600.1:p.Ser182_Leu189del
ENST00000696391.1:c.*610_*633del	ENSP00000512601.1:n.*610_*633del
ENST00000696392.1:c.754_777del	ENSP00000512602.1:p.Ser252_Leu259del
ENST00000696393.1:c.754_777del	ENSP00000512603.1:p.Ser252_Leu259del
ENST00000696405.1:c.677+305_677+328del	ENSP00000512607.1:n.677+305_677+328del
ENST00000269097.9:c.754_777del MANE Select	ENSP00000269097.3:p.Ser252_Leu259del
ENST00000269097.8:c.754_777del	ENSP00000269097.3:p.Ser252_Leu259del
ENST00000585361.5:c.*591_*614del	ENSP00000466983.1:n.*591_*614del
ENST00000588558.5:c.*729_*752del	ENSP00000467624.1:n.*729_*752del
ENST00000590253.2:c.256_279del
ENST00000590639.1:n.775_798del
ENST00000591696.1:c.646_669del	ENSP00000468677.1:p.Ser216_Leu223del
NM_138387.3:c.754_777del , LRG_182t1:c.754_777del	NP_612396.1:p.Ser252_Leu259del
NR_028581.1:n.1184_1207del
NR_028582.1:n.1049_1072del
XM_011525473.1:c.409_432del	XP_011523775.1:p.Ser137_Leu144del
XM_011525474.1:c.409_432del	XP_011523776.1:p.Ser137_Leu144del
NM_001319945.1:c.*47_*70del	NP_001306874.1:n.*47_*70del
XM_011525473.3:c.409_432del	XP_011523775.1:p.Ser137_Leu144del
XM_011525474.3:c.409_432del	XP_011523776.1:p.Ser137_Leu144del
XM_017025335.2:c.409_432del	XP_016880824.1:p.Ser137_Leu144del
NM_001319945.2:c.*47_*70del	NP_001306874.1:n.*47_*70del
NR_028581.2:n.1003_1026del
NR_028582.2:n.868_891del
NM_001384165.1:c.409_432del	NP_001371094.1:p.Ser137_Leu144del
NM_001384166.1:c.409_432del	NP_001371095.1:p.Ser137_Leu144del
NM_001384167.1:c.409_432del	NP_001371096.1:p.Ser137_Leu144del
NM_001384168.1:c.409_432del	NP_001371097.1:p.Ser137_Leu144del
NM_138387.4:c.754_777del MANE Select	NP_612396.1:p.Ser252_Leu259del