Canonical Allele Identifier: CA585763381

Gene: GLDC

Linked Data

• dbSNP Id: rs1446960824
• gnomAD v2: 9-6558565-C-CCTACCCCGGG
• MyVariant Identifiers: chr9:g.6558565_6558566insCTACCCCGGG (hg19) ; chr9:g.6558565_6558566insCTACCCCGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558565_6558566insCTACCCCGGG , CM000671.2:g.6558565_6558566insCTACCCCGGG	GRCh38
NC_000009.11:g.6558565_6558566insCTACCCCGGG , CM000671.1:g.6558565_6558566insCTACCCCGGG	GRCh37
NC_000009.10:g.6548565_6548566insCTACCCCGGG	NCBI36
NG_016397.1:g.92127_92128insCCCGGGGTAG , LRG_643:g.92127_92128insCCCGGGGTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2045_2046insCCCGGGGTAG MANE Select	ENSP00000370737.4:p.Lys682AsnfsTer4
ENST00000460457.2:n.205_206insCCCGGGGTAG
ENST00000638233.1:n.480_481insCCCGGGGTAG
ENST00000638661.1:c.245_246insCCCGGGGTAG	ENSP00000491369.1:p.Lys82AsnfsTer4
ENST00000638694.1:n.232_233insCCCGGGGTAG
ENST00000639318.1:c.245_246insCCCGGGGTAG	ENSP00000491932.1:p.Lys82AsnfsTer4
ENST00000639364.1:n.1745_1746insCCCGGGGTAG
ENST00000639443.1:n.1613_1614insCCCGGGGTAG
ENST00000639954.1:n.1753_1754insCCCGGGGTAG
ENST00000640208.1:c.245_246insCCCGGGGTAG	ENSP00000491895.1:p.Lys82AsnfsTer4
ENST00000640505.1:n.284_285insCCCGGGGTAG
ENST00000640592.1:n.1928_1929insCCCGGGGTAG
ENST00000321612.6:c.2045_2046insCCCGGGGTAG	ENSP00000370737.3:p.Lys682AsnfsTer4
ENST00000460457.1:n.184_185insCCCGGGGTAG
NM_000170.2:c.2045_2046insCCCGGGGTAG , LRG_643t1:c.2045_2046insCCCGGGGTAG	NP_000161.2:p.Lys682AsnfsTer4
NM_000170.3:c.2045_2046insCCCGGGGTAG MANE Select	NP_000161.2:p.Lys682AsnfsTer4