Canonical Allele Identifier: CA913183015
Gene: GLDC HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.6558575_6558578del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6558575_6558578del , CM000671.2:g.6558575_6558578del GRCh38
NC_000009.11:g.6558575_6558578del , CM000671.1:g.6558575_6558578del GRCh37
NC_000009.10:g.6548575_6548578del NCBI36
NG_016397.1:g.92115_92118del , LRG_643:g.92115_92118del

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2033_2036del MANE Select ENSP00000370737.4:p.Ala678ValfsTer14
ENST00000460457.2:n.193_196del
ENST00000638233.1:n.468_471del
ENST00000638661.1:c.233_236del ENSP00000491369.1:p.Ala78ValfsTer14
ENST00000638694.1:n.220_223del
ENST00000639318.1:c.233_236del ENSP00000491932.1:p.Ala78ValfsTer14
ENST00000639364.1:n.1733_1736del
ENST00000639443.1:n.1601_1604del
ENST00000639954.1:n.1741_1744del
ENST00000640208.1:c.233_236del ENSP00000491895.1:p.Ala78ValfsTer12
ENST00000640505.1:n.272_275del
ENST00000640592.1:n.1916_1919del
ENST00000321612.6:c.2033_2036del ENSP00000370737.3:p.Ala678ValfsTer14
ENST00000460457.1:n.172_175del
NM_000170.2:c.2033_2036del , LRG_643t1:c.2033_2036del NP_000161.2:p.Ala678ValfsTer14
NM_000170.3:c.2033_2036del MANE Select NP_000161.2:p.Ala678ValfsTer14