Canonical Allele Identifier: CA263278
Gene: GLDC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6604649dup , CM000671.2:g.6604649dup GRCh38
NC_000009.11:g.6604649dup , CM000671.1:g.6604649dup GRCh37
NC_000009.10:g.6594649dup NCBI36
NG_016397.1:g.46049dup , LRG_643:g.46049dup

Transcript Alleles

HGVS Amino-acid Change
NM_000170.3:c.1002dup MANE Select NP_000161.2:p.Ala335CysfsTer?
ENST00000321612.8:c.1002dup MANE Select ENSP00000370737.4:p.Ala335CysfsTer?
NM_000170.2:c.1002dup , LRG_643t1:c.1002dup NP_000161.2:p.Ala335CysfsTer?
ENST00000321612.6:c.1002dup ENSP00000370737.3:p.Ala335CysfsTer?
ENST00000463305.1:n.142+487dup
ENST00000638654.1:c.249dup ENSP00000491101.1:p.Ala84CysfsTer?
ENST00000639364.1:n.702dup
ENST00000639443.1:n.570dup
ENST00000639493.1:n.154dup
ENST00000639954.1:n.710dup
ENST00000640592.1:n.885dup
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