Canonical Allele Identifier: CA2689358033
Gene: GLDC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556136_6556137del , CM000671.2:g.6556136_6556137del GRCh38
NC_000009.11:g.6556136_6556137del , CM000671.1:g.6556136_6556137del GRCh37
NC_000009.10:g.6546136_6546137del NCBI36
NG_016397.1:g.94556_94557del , LRG_643:g.94556_94557del

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2202+16_2202+17del MANE Select ENSP00000370737.4:n.2202+16_2202+17del
ENST00000638233.1:n.637+16_637+17del
ENST00000638661.1:c.402+16_402+17del ENSP00000491369.1:n.402+16_402+17del
ENST00000638694.1:n.389+16_389+17del
ENST00000639318.1:c.402+16_402+17del ENSP00000491932.1:n.402+16_402+17del
ENST00000639364.1:n.1902+16_1902+17del
ENST00000639443.1:n.1770+16_1770+17del
ENST00000639954.1:n.1910+16_1910+17del
ENST00000640505.1:n.441+16_441+17del
ENST00000321612.6:c.2202+16_2202+17del ENSP00000370737.3:n.2202+16_2202+17del
NM_000170.2:c.2202+16_2202+17del , LRG_643t1:c.2202+16_2202+17del NP_000161.2:n.2202+16_2202+17del
NM_000170.3:c.2202+16_2202+17del MANE Select NP_000161.2:n.2202+16_2202+17del