Canonical Allele Identifier: CA2689358043
Gene: GLDC HGNC NCBI

Linked Data

gnomAD v4: 9-6556319-GTA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556320_6556321del , CM000671.2:g.6556320_6556321del GRCh38
NC_000009.11:g.6556320_6556321del , CM000671.1:g.6556320_6556321del GRCh37
NC_000009.10:g.6546320_6546321del NCBI36
NG_016397.1:g.94372_94373del , LRG_643:g.94372_94373del

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.2053-19_2053-18del MANE Select ENSP00000370737.4:n.2053-19_2053-18del
ENST00000638233.1:n.488-19_488-18del
ENST00000638661.1:c.253-19_253-18del ENSP00000491369.1:n.253-19_253-18del
ENST00000638694.1:n.240-19_240-18del
ENST00000639318.1:c.253-19_253-18del ENSP00000491932.1:n.253-19_253-18del
ENST00000639364.1:n.1753-19_1753-18del
ENST00000639443.1:n.1621-19_1621-18del
ENST00000639954.1:n.1761-19_1761-18del
ENST00000640505.1:n.292-19_292-18del
ENST00000321612.6:c.2053-19_2053-18del ENSP00000370737.3:n.2053-19_2053-18del
NM_000170.2:c.2053-19_2053-18del , LRG_643t1:c.2053-19_2053-18del NP_000161.2:n.2053-19_2053-18del
NM_000170.3:c.2053-19_2053-18del MANE Select NP_000161.2:n.2053-19_2053-18del
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