Canonical Allele Identifier: CA626222923

Gene: G6PC3

Linked Data

• dbSNP Id: rs1190033305
• gnomAD v2: 17-42152695-CTGA-C
• gnomAD v3: 17-44075327-CTGA-C
• gnomAD v4: 17-44075327-CTGA-C
• MyVariant Identifiers: chr17:g.42152696_42152698del (hg19) ; chr17:g.44075328_44075330del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075331_44075333del , CM000679.2:g.44075331_44075333del	GRCh38
NC_000017.10:g.42152699_42152701del , CM000679.1:g.42152699_42152701del	GRCh37
NC_000017.9:g.39508225_39508227del	NCBI36
NG_015818.1:g.9602_9604del , LRG_182:g.9602_9604del

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*394_*396del	ENSP00000466983.1:n.*394_*396del
ENST00000588558.6:c.*532_*534del	ENSP00000467624.1:n.*532_*534del
ENST00000590253.3:c.438_440del	ENSP00000465111.2:p.Asp147del
ENST00000593115.2:c.*578_*580del	ENSP00000466821.1:n.*578_*580del
ENST00000696383.1:c.212_214del	ENSP00000512593.1:p.Met71del
ENST00000696384.1:c.*117_*119del	ENSP00000512594.1:n.*117_*119del
ENST00000696385.1:c.*275_*277del	ENSP00000512595.1:n.*275_*277del
ENST00000696386.1:c.240_242del	ENSP00000512596.1:p.Asp81del
ENST00000696387.1:c.*184_*186del	ENSP00000512597.1:n.*184_*186del
ENST00000696388.1:c.*403_*405del	ENSP00000512598.1:n.*403_*405del
ENST00000696389.1:c.*588_*590del	ENSP00000512599.1:n.*588_*590del
ENST00000696390.1:c.347_349del	ENSP00000512600.1:p.Met116del
ENST00000696391.1:c.*413_*415del	ENSP00000512601.1:n.*413_*415del
ENST00000696392.1:c.557_559del	ENSP00000512602.1:p.Met186del
ENST00000696393.1:c.557_559del	ENSP00000512603.1:p.Met186del
ENST00000696405.1:c.557_559del	ENSP00000512607.1:p.Met186del
ENST00000269097.9:c.557_559del MANE Select	ENSP00000269097.3:p.Met186del
ENST00000269097.8:c.557_559del	ENSP00000269097.3:p.Met186del
ENST00000585361.5:c.*394_*396del	ENSP00000466983.1:n.*394_*396del
ENST00000588558.5:c.*532_*534del	ENSP00000467624.1:n.*532_*534del
ENST00000590253.2:c.59_61del
ENST00000590639.1:n.578_580del
ENST00000591696.1:c.449_451del	ENSP00000468677.1:p.Met150del
NM_138387.3:c.557_559del , LRG_182t1:c.557_559del	NP_612396.1:p.Met186del
NR_028581.1:n.987_989del
NR_028582.1:n.852_854del
XM_006722179.2:c.438_440del	XP_006722242.1:p.Asp147del
XM_011525473.1:c.212_214del	XP_011523775.1:p.Met71del
XM_011525474.1:c.212_214del	XP_011523776.1:p.Met71del
NM_001319945.1:c.438_440del	NP_001306874.1:p.Asp147del
XM_011525473.3:c.212_214del	XP_011523775.1:p.Met71del
XM_011525474.3:c.212_214del	XP_011523776.1:p.Met71del
XM_017025335.2:c.212_214del	XP_016880824.1:p.Met71del
NM_001319945.2:c.438_440del	NP_001306874.1:p.Asp147del
NR_028581.2:n.806_808del
NR_028582.2:n.671_673del
NM_001384165.1:c.212_214del	NP_001371094.1:p.Met71del
NM_001384166.1:c.212_214del	NP_001371095.1:p.Met71del
NM_001384167.1:c.212_214del	NP_001371096.1:p.Met71del
NM_001384168.1:c.212_214del	NP_001371097.1:p.Met71del
NM_138387.4:c.557_559del MANE Select	NP_612396.1:p.Met186del