Canonical Allele Identifier: CA1120883352

Gene: GLDC

Linked Data

• dbSNP Id: rs1817621039
• gnomAD v3: 9-6555964-CACAGCTG-C
• gnomAD v4: 9-6555964-CACAGCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6555966_6555972del , CM000671.2:g.6555966_6555972del	GRCh38
NC_000009.11:g.6555966_6555972del , CM000671.1:g.6555966_6555972del	GRCh37
NC_000009.10:g.6545966_6545972del	NCBI36
NG_016397.1:g.94722_94728del , LRG_643:g.94722_94728del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2202+182_2202+188del MANE Select	ENSP00000370737.4:n.2202+182_2202+188del
ENST00000638233.1:n.637+182_637+188del
ENST00000638661.1:c.402+182_402+188del	ENSP00000491369.1:n.402+182_402+188del
ENST00000638694.1:n.389+182_389+188del
ENST00000639318.1:c.402+182_402+188del	ENSP00000491932.1:n.402+182_402+188del
ENST00000639364.1:n.1902+182_1902+188del
ENST00000639443.1:n.1770+182_1770+188del
ENST00000639954.1:n.1910+182_1910+188del
ENST00000640505.1:n.441+182_441+188del
ENST00000321612.6:c.2202+182_2202+188del	ENSP00000370737.3:n.2202+182_2202+188del
NM_000170.2:c.2202+182_2202+188del , LRG_643t1:c.2202+182_2202+188del	NP_000161.2:n.2202+182_2202+188del
NM_000170.3:c.2202+182_2202+188del MANE Select	NP_000161.2:n.2202+182_2202+188del