Canonical Allele Identifier: CA4980427

Gene: GLDC

Linked Data

• ClinVar Variation Id: 2022257
• ClinVar RCV Id: RCV002847636
• dbSNP Id: rs745711596
• ExAC: 9:6558545 GAGA / G
• gnomAD v2: 9-6558545-GAGA-G
• gnomAD v3: 9-6558545-GAGA-G
• gnomAD v4: 9-6558545-GAGA-G
• MyVariant Identifiers: chr9:g.6558546_6558548del (hg19) ; chr9:g.6558547_6558549del (hg38) ; chr9:g.6558546_6558548del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558549_6558551del , CM000671.2:g.6558549_6558551del	GRCh38
NC_000009.11:g.6558549_6558551del , CM000671.1:g.6558549_6558551del	GRCh37
NC_000009.10:g.6548549_6548551del	NCBI36
NG_016397.1:g.92145_92147del , LRG_643:g.92145_92147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2052+11_2052+13del MANE Select	ENSP00000370737.4:n.2052+11_2052+13del
ENST00000460457.2:n.212+11_212+13del
ENST00000638233.1:n.487+11_487+13del
ENST00000638661.1:c.252+11_252+13del	ENSP00000491369.1:n.252+11_252+13del
ENST00000638694.1:n.239+11_239+13del
ENST00000639318.1:c.252+11_252+13del	ENSP00000491932.1:n.252+11_252+13del
ENST00000639364.1:n.1752+11_1752+13del
ENST00000639443.1:n.1620+11_1620+13del
ENST00000639954.1:n.1760+11_1760+13del
ENST00000640208.1:c.263_265del	ENSP00000491895.1:p.Phe88del
ENST00000640505.1:n.291+11_291+13del
ENST00000640592.1:n.1946_1948del
ENST00000321612.6:c.2052+11_2052+13del	ENSP00000370737.3:n.2052+11_2052+13del
ENST00000460457.1:n.202_204del
NM_000170.2:c.2052+11_2052+13del , LRG_643t1:c.2052+11_2052+13del	NP_000161.2:n.2052+11_2052+13del
NM_000170.3:c.2052+11_2052+13del MANE Select	NP_000161.2:n.2052+11_2052+13del