Canonical Allele Identifier: CA1830492826
Gene: GLDC HGNC NCBI

Linked Data

dbSNP Id: rs1293305536

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6555804_6555805del , CM000671.2:g.6555804_6555805del GRCh38
NC_000009.11:g.6555804_6555805del , CM000671.1:g.6555804_6555805del GRCh37
NC_000009.10:g.6545804_6545805del NCBI36
NG_016397.1:g.94889_94890del , LRG_643:g.94889_94890del

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2202+349_2202+350del MANE Select ENSP00000370737.4:n.2202+349_2202+350del
ENST00000638233.1:n.637+349_637+350del
ENST00000638661.1:c.402+349_402+350del ENSP00000491369.1:n.402+349_402+350del
ENST00000638694.1:n.389+349_389+350del
ENST00000639318.1:c.402+349_402+350del ENSP00000491932.1:n.402+349_402+350del
ENST00000639364.1:n.1902+349_1902+350del
ENST00000639443.1:n.1770+349_1770+350del
ENST00000639954.1:n.1910+349_1910+350del
ENST00000640505.1:n.441+349_441+350del
ENST00000321612.6:c.2202+349_2202+350del ENSP00000370737.3:n.2202+349_2202+350del
NM_000170.2:c.2202+349_2202+350del , LRG_643t1:c.2202+349_2202+350del NP_000161.2:n.2202+349_2202+350del
NM_000170.3:c.2202+349_2202+350del MANE Select NP_000161.2:n.2202+349_2202+350del