Allele Registry

Canonical Allele Identifier: CA263346

Gene: GLDC HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr9:g.6554770_6554771del

GRCh37 chr9:g.6554770_6554771del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000049474

ClinVar Variation:

56065

dbSNP:

386833546

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6554771_6554772del , CM000671.2:g.6554771_6554772del	GRCh38
NC_000009.11:g.6554771_6554772del , CM000671.1:g.6554771_6554772del	GRCh37
NC_000009.10:g.6544771_6544772del	NCBI36
NG_016397.1:g.95922_95923del , LRG_643:g.95922_95923del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2213_2214del MANE Select	ENSP00000370737.4:p.Cys738SerfsTer8
ENST00000638233.1:n.648_649del
ENST00000638661.1:c.413_414del	ENSP00000491369.1:p.Cys138SerfsTer8
ENST00000638694.1:n.400_401del
ENST00000639318.1:c.413_414del	ENSP00000491932.1:p.Cys138SerfsTer8
ENST00000639364.1:n.1913_1914del
ENST00000639443.1:n.1781_1782del
ENST00000639639.1:c.-86_-85del	ENSP00000491312.1:n.-86_-85del
ENST00000639954.1:n.1921_1922del
ENST00000640505.1:n.452_453del
ENST00000321612.6:c.2213_2214del	ENSP00000370737.3:p.Cys738SerfsTer8
ENST00000467946.1:n.139_140del
NM_000170.2:c.2213_2214del , LRG_643t1:c.2213_2214del	NP_000161.2:p.Cys738SerfsTer8
NM_000170.3:c.2213_2214del MANE Select	NP_000161.2:p.Cys738SerfsTer8

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