Canonical Allele Identifier: CA2689357998

Gene: GLDC

Linked Data

• gnomAD v4: 9-6556105-TATCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556106_6556110del , CM000671.2:g.6556106_6556110del	GRCh38
NC_000009.11:g.6556106_6556110del , CM000671.1:g.6556106_6556110del	GRCh37
NC_000009.10:g.6546106_6546110del	NCBI36
NG_016397.1:g.94583_94587del , LRG_643:g.94583_94587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2202+43_2202+47del MANE Select	ENSP00000370737.4:n.2202+43_2202+47del
ENST00000638233.1:n.637+43_637+47del
ENST00000638661.1:c.402+43_402+47del	ENSP00000491369.1:n.402+43_402+47del
ENST00000638694.1:n.389+43_389+47del
ENST00000639318.1:c.402+43_402+47del	ENSP00000491932.1:n.402+43_402+47del
ENST00000639364.1:n.1902+43_1902+47del
ENST00000639443.1:n.1770+43_1770+47del
ENST00000639954.1:n.1910+43_1910+47del
ENST00000640505.1:n.441+43_441+47del
ENST00000321612.6:c.2202+43_2202+47del	ENSP00000370737.3:n.2202+43_2202+47del
NM_000170.2:c.2202+43_2202+47del , LRG_643t1:c.2202+43_2202+47del	NP_000161.2:n.2202+43_2202+47del
NM_000170.3:c.2202+43_2202+47del MANE Select	NP_000161.2:n.2202+43_2202+47del