Canonical Allele Identifier: CA1120883351

Gene: GLDC

Linked Data

• dbSNP Id: rs1817620765
• gnomAD v3: 9-6555960-ATT-A
• gnomAD v4: 9-6555960-ATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6555962_6555963del , CM000671.2:g.6555962_6555963del	GRCh38
NC_000009.11:g.6555962_6555963del , CM000671.1:g.6555962_6555963del	GRCh37
NC_000009.10:g.6545962_6545963del	NCBI36
NG_016397.1:g.94731_94732del , LRG_643:g.94731_94732del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2202+191_2202+192del MANE Select	ENSP00000370737.4:n.2202+191_2202+192del
ENST00000638233.1:n.637+191_637+192del
ENST00000638661.1:c.402+191_402+192del	ENSP00000491369.1:n.402+191_402+192del
ENST00000638694.1:n.389+191_389+192del
ENST00000639318.1:c.402+191_402+192del	ENSP00000491932.1:n.402+191_402+192del
ENST00000639364.1:n.1902+191_1902+192del
ENST00000639443.1:n.1770+191_1770+192del
ENST00000639954.1:n.1910+191_1910+192del
ENST00000640505.1:n.441+191_441+192del
ENST00000321612.6:c.2202+191_2202+192del	ENSP00000370737.3:n.2202+191_2202+192del
NM_000170.2:c.2202+191_2202+192del , LRG_643t1:c.2202+191_2202+192del	NP_000161.2:n.2202+191_2202+192del
NM_000170.3:c.2202+191_2202+192del MANE Select	NP_000161.2:n.2202+191_2202+192del