Canonical Allele Identifier: CA1120883512

Gene: GLDC

Linked Data

• dbSNP Id: rs1817630168
• gnomAD v3: 9-6556295-T-TAAA
• gnomAD v4: 9-6556295-T-TAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556295_6556296insAAA , CM000671.2:g.6556295_6556296insAAA	GRCh38
NC_000009.11:g.6556295_6556296insAAA , CM000671.1:g.6556295_6556296insAAA	GRCh37
NC_000009.10:g.6546295_6546296insAAA	NCBI36
NG_016397.1:g.94397_94398insTTT , LRG_643:g.94397_94398insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2059_2060insTTT MANE Select	ENSP00000370737.4:p.Lys687IlefsTer2
ENST00000638233.1:n.494_495insTTT
ENST00000638661.1:c.259_260insTTT	ENSP00000491369.1:p.Lys87IlefsTer2
ENST00000638694.1:n.246_247insTTT
ENST00000639318.1:c.259_260insTTT	ENSP00000491932.1:p.Lys87IlefsTer2
ENST00000639364.1:n.1759_1760insTTT
ENST00000639443.1:n.1627_1628insTTT
ENST00000639954.1:n.1767_1768insTTT
ENST00000640505.1:n.298_299insTTT
ENST00000321612.6:c.2059_2060insTTT	ENSP00000370737.3:p.Lys687IlefsTer2
NM_000170.2:c.2059_2060insTTT , LRG_643t1:c.2059_2060insTTT	NP_000161.2:p.Lys687IlefsTer2
NM_000170.3:c.2059_2060insTTT MANE Select	NP_000161.2:p.Lys687IlefsTer2