Canonical Allele Identifier: CA983867445

Gene: G6PC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42903715_42903717del , CM000679.2:g.42903715_42903717del	GRCh38
NC_000017.10:g.41055732_41055734del , CM000679.1:g.41055732_41055734del	GRCh37
NC_000017.9:g.38309258_38309260del	NCBI36
NG_011808.1:g.7918_7920del , LRG_147:g.7918_7920del

Transcript Alleles

HGVS	Amino-acid Change
NM_000151.4:c.231-216_231-214del MANE Select	NP_000142.2:n.231-216_231-214del
ENST00000253801.7:c.231-216_231-214del MANE Select	ENSP00000253801.1:n.231-216_231-214del
NM_000151.3:c.231-216_231-214del	NP_000142.2:n.231-216_231-214del
NM_001270397.1:c.231-216_231-214del	NP_001257326.1:n.231-216_231-214del
NM_001270397.2:c.231-216_231-214del	NP_001257326.1:n.231-216_231-214del
ENST00000253801.6:c.231-216_231-214del	ENSP00000253801.1:n.231-216_231-214del
ENST00000585489.1:c.231-216_231-214del	ENSP00000466202.1:n.231-216_231-214del
ENST00000588481.1:n.296-216_296-214del
ENST00000592383.5:c.231-216_231-214del	ENSP00000465958.1:n.231-216_231-214del