Canonical Allele Identifier: CA1830527712
Gene: GLDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6594912_6594914delinsCTT , CM000671.2:g.6594912_6594914delinsCTT GRCh38
NC_000009.11:g.6594912_6594914delinsCTT , CM000671.1:g.6594912_6594914delinsCTT GRCh37
NC_000009.10:g.6584912_6584914delinsCTT NCBI36
NG_016397.1:g.55779_55781delinsAAG , LRG_643:g.55779_55781delinsAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1261+100_1261+102delinsAAG MANE Select ENSP00000370737.4:n.1261+100_1261+102delinsAAG
ENST00000639364.1:n.961+100_961+102delinsAAG
ENST00000639443.1:n.829+100_829+102delinsAAG
ENST00000639493.1:n.413+100_413+102delinsAAG
ENST00000639954.1:n.969+100_969+102delinsAAG
ENST00000640592.1:n.1144+100_1144+102delinsAAG
ENST00000321612.6:c.1261+100_1261+102delinsAAG ENSP00000370737.3:n.1261+100_1261+102delinsAAG
ENST00000463305.1:n.345+100_345+102delinsAAG
NM_000170.2:c.1261+100_1261+102delinsAAG , LRG_643t1:c.1261+100_1261+102delinsAAG NP_000161.2:n.1261+100_1261+102delinsAAG
NM_000170.3:c.1261+100_1261+102delinsAAG MANE Select NP_000161.2:n.1261+100_1261+102delinsAAG