Canonical Allele Identifier: CA1830492949

Gene: GLDC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6555889_6555892delinsTTTC , CM000671.2:g.6555889_6555892delinsTTTC	GRCh38
NC_000009.11:g.6555889_6555892delinsTTTC , CM000671.1:g.6555889_6555892delinsTTTC	GRCh37
NC_000009.10:g.6545889_6545892delinsTTTC	NCBI36
NG_016397.1:g.94801_94804delinsGAAA , LRG_643:g.94801_94804delinsGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2202+261_2202+264delinsGAAA MANE Select	ENSP00000370737.4:n.2202+261_2202+264delinsGAAA
ENST00000638233.1:n.637+261_637+264delinsGAAA
ENST00000638661.1:c.402+261_402+264delinsGAAA	ENSP00000491369.1:n.402+261_402+264delinsGAAA
ENST00000638694.1:n.389+261_389+264delinsGAAA
ENST00000639318.1:c.402+261_402+264delinsGAAA	ENSP00000491932.1:n.402+261_402+264delinsGAAA
ENST00000639364.1:n.1902+261_1902+264delinsGAAA
ENST00000639443.1:n.1770+261_1770+264delinsGAAA
ENST00000639954.1:n.1910+261_1910+264delinsGAAA
ENST00000640505.1:n.441+261_441+264delinsGAAA
ENST00000321612.6:c.2202+261_2202+264delinsGAAA	ENSP00000370737.3:n.2202+261_2202+264delinsGAAA
NM_000170.2:c.2202+261_2202+264delinsGAAA , LRG_643t1:c.2202+261_2202+264delinsGAAA	NP_000161.2:n.2202+261_2202+264delinsGAAA
NM_000170.3:c.2202+261_2202+264delinsGAAA MANE Select	NP_000161.2:n.2202+261_2202+264delinsGAAA