Canonical Allele Identifier: CA4980433

Gene: GLDC

Linked Data

• ClinVar Variation Id: 558242
• ClinVar RCV Id: RCV000674479
• dbSNP Id: rs769625871
• ExAC: 9:6558575 ACTG / A
• gnomAD v2: 9-6558575-ACTG-A
• gnomAD v4: 9-6558575-ACTG-A
• MyVariant Identifiers: chr9:g.6558576_6558578del (hg19) ; chr9:g.6558576_6558578del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558577_6558579del , CM000671.2:g.6558577_6558579del	GRCh38
NC_000009.11:g.6558577_6558579del , CM000671.1:g.6558577_6558579del	GRCh37
NC_000009.10:g.6548577_6548579del	NCBI36
NG_016397.1:g.92115_92117del , LRG_643:g.92115_92117del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2033_2035del MANE Select	ENSP00000370737.4:p.Ala678del
ENST00000460457.2:n.193_195del
ENST00000638233.1:n.468_470del
ENST00000638661.1:c.233_235del	ENSP00000491369.1:p.Ala78del
ENST00000638694.1:n.220_222del
ENST00000639318.1:c.233_235del	ENSP00000491932.1:p.Ala78del
ENST00000639364.1:n.1733_1735del
ENST00000639443.1:n.1601_1603del
ENST00000639954.1:n.1741_1743del
ENST00000640208.1:c.233_235del	ENSP00000491895.1:p.Ala78del
ENST00000640505.1:n.272_274del
ENST00000640592.1:n.1916_1918del
ENST00000321612.6:c.2033_2035del	ENSP00000370737.3:p.Ala678del
ENST00000460457.1:n.172_174del
NM_000170.2:c.2033_2035del , LRG_643t1:c.2033_2035del	NP_000161.2:p.Ala678del
NM_000170.3:c.2033_2035del MANE Select	NP_000161.2:p.Ala678del