Canonical Allele Identifier: CA1830493355

Gene: GLDC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556168_6556169delinsTG , CM000671.2:g.6556168_6556169delinsTG	GRCh38
NC_000009.11:g.6556168_6556169delinsTG , CM000671.1:g.6556168_6556169delinsTG	GRCh37
NC_000009.10:g.6546168_6546169delinsTG	NCBI36
NG_016397.1:g.94524_94525delinsCA , LRG_643:g.94524_94525delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2186_2187delinsCA MANE Select	ENSP00000370737.4:p.Ala729=
ENST00000638233.1:n.621_622delinsCA
ENST00000638661.1:c.386_387delinsCA	ENSP00000491369.1:p.Ala129=
ENST00000638694.1:n.373_374delinsCA
ENST00000639318.1:c.386_387delinsCA	ENSP00000491932.1:p.Ala129=
ENST00000639364.1:n.1886_1887delinsCA
ENST00000639443.1:n.1754_1755delinsCA
ENST00000639954.1:n.1894_1895delinsCA
ENST00000640505.1:n.425_426delinsCA
ENST00000321612.6:c.2186_2187delinsCA	ENSP00000370737.3:p.Ala729=
NM_000170.2:c.2186_2187delinsCA , LRG_643t1:c.2186_2187delinsCA	NP_000161.2:p.Ala729=
NM_000170.3:c.2186_2187delinsCA MANE Select	NP_000161.2:p.Ala729=