Canonical Allele Identifier: CA2689358962

Gene: GLDC

Linked Data

• gnomAD v4: 9-6565362-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6565365_6565366del , CM000671.2:g.6565365_6565366del	GRCh38
NC_000009.11:g.6565365_6565366del , CM000671.1:g.6565365_6565366del	GRCh37
NC_000009.10:g.6555365_6555366del	NCBI36
NG_016397.1:g.85329_85330del , LRG_643:g.85329_85330del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1916_1917del MANE Select	ENSP00000370737.4:p.Gly639AlafsTer?
ENST00000460457.2:n.76_77del
ENST00000638233.1:n.351_352del
ENST00000638661.1:c.116_117del	ENSP00000491369.1:p.Gly39AlafsTer?
ENST00000638694.1:n.103_104del
ENST00000639318.1:c.116_117del	ENSP00000491932.1:p.Gly39AlafsTer?
ENST00000639364.1:n.1616_1617del
ENST00000639443.1:n.1484_1485del
ENST00000639954.1:n.1624_1625del
ENST00000640208.1:c.116_117del	ENSP00000491895.1:p.Gly39AlafsTer?
ENST00000640505.1:n.155_156del
ENST00000640592.1:n.1799_1800del
ENST00000321612.6:c.1916_1917del	ENSP00000370737.3:p.Gly639AlafsTer?
ENST00000460457.1:n.55_56del
NM_000170.2:c.1916_1917del , LRG_643t1:c.1916_1917del	NP_000161.2:p.Gly639AlafsTer?
NM_000170.3:c.1916_1917del MANE Select	NP_000161.2:p.Gly639AlafsTer?