Canonical Allele Identifier: CA2689358049
Gene: GLDC HGNC NCBI

Linked Data

gnomAD v4: 9-6556332-TGGAG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556338_6556341del , CM000671.2:g.6556338_6556341del GRCh38
NC_000009.11:g.6556338_6556341del , CM000671.1:g.6556338_6556341del GRCh37
NC_000009.10:g.6546338_6546341del NCBI36
NG_016397.1:g.94357_94360del , LRG_643:g.94357_94360del

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.2053-34_2053-31del MANE Select ENSP00000370737.4:n.2053-34_2053-31del
ENST00000638233.1:n.488-34_488-31del
ENST00000638661.1:c.253-34_253-31del ENSP00000491369.1:n.253-34_253-31del
ENST00000638694.1:n.240-34_240-31del
ENST00000639318.1:c.253-34_253-31del ENSP00000491932.1:n.253-34_253-31del
ENST00000639364.1:n.1753-34_1753-31del
ENST00000639443.1:n.1621-34_1621-31del
ENST00000639954.1:n.1761-34_1761-31del
ENST00000640505.1:n.292-34_292-31del
ENST00000321612.6:c.2053-34_2053-31del ENSP00000370737.3:n.2053-34_2053-31del
NM_000170.2:c.2053-34_2053-31del , LRG_643t1:c.2053-34_2053-31del NP_000161.2:n.2053-34_2053-31del
NM_000170.3:c.2053-34_2053-31del MANE Select NP_000161.2:n.2053-34_2053-31del
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