Canonical Allele Identifier: CA585763382

Gene: GLDC

Linked Data

• dbSNP Id: rs1211401816
• gnomAD v2: 9-6558567-T-TCACACAACTCACTCACTAACAATGGTGGCCTGTGAATGACTGTCTA
• MyVariant Identifiers: chr9:g.6558567_6558568insCACACAACTCACTCACTAACAATGGTGGCCTGTGAATGACTGTCTA (hg19) ; chr9:g.6558567_6558568insCACACAACTCACTCACTAACAATGGTGGCCTGTGAATGACTGTCTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558567_6558568insCACACAACTCACTCACTAACAATGGTGGCCTGTGAATGACTGTCTA , CM000671.2:g.6558567_6558568insCACACAACTCACTCACTAACAATGGTGGCCTGTGAATGACTGTCTA	GRCh38
NC_000009.11:g.6558567_6558568insCACACAACTCACTCACTAACAATGGTGGCCTGTGAATGACTGTCTA , CM000671.1:g.6558567_6558568insCACACAACTCACTCACTAACAATGGTGGCCTGTGAATGACTGTCTA	GRCh37
NC_000009.10:g.6548567_6548568insCACACAACTCACTCACTAACAATGGTGGCCTGTGAATGACTGTCTA	NCBI36
NG_016397.1:g.92125_92126insTAGACAGTCATTCACAGGCCACCATTGTTAGTGAGTGAGTTGTGTG , LRG_643:g.92125_92126insTAGACAGTCATTCACAGGCCACCATTGTTAGTGAGTGAGTTGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2043_2044insTAGACAGTCATTCACAGGCCACCATTGTTAGTGAGTGAGTTGTGTG MANE Select	ENSP00000370737.4:p.Lys682Ter
ENST00000460457.2:n.203_204insTAGACAGTCATTCACAGGCCACCATTGTTAGTGAGTGAGTTGTGTG
ENST00000638233.1:n.478_479insTAGACAGTCATTCACAGGCCACCATTGTTAGTGAGTGAGTTGTGTG
ENST00000638661.1:c.243_244insTAGACAGTCATTCACAGGCCACCATTGTTAGTGAGTGAGTTGTGTG	ENSP00000491369.1:p.Lys82Ter
ENST00000638694.1:n.230_231insTAGACAGTCATTCACAGGCCACCATTGTTAGTGAGTGAGTTGTGTG
ENST00000639318.1:c.243_244insTAGACAGTCATTCACAGGCCACCATTGTTAGTGAGTGAGTTGTGTG	ENSP00000491932.1:p.Lys82Ter
ENST00000639364.1:n.1743_1744insTAGACAGTCATTCACAGGCCACCATTGTTAGTGAGTGAGTTGTGTG
ENST00000639443.1:n.1611_1612insTAGACAGTCATTCACAGGCCACCATTGTTAGTGAGTGAGTTGTGTG
ENST00000639954.1:n.1751_1752insTAGACAGTCATTCACAGGCCACCATTGTTAGTGAGTGAGTTGTGTG
ENST00000640208.1:c.243_244insTAGACAGTCATTCACAGGCCACCATTGTTAGTGAGTGAGTTGTGTG	ENSP00000491895.1:p.Lys82Ter
ENST00000640505.1:n.282_283insTAGACAGTCATTCACAGGCCACCATTGTTAGTGAGTGAGTTGTGTG
ENST00000640592.1:n.1926_1927insTAGACAGTCATTCACAGGCCACCATTGTTAGTGAGTGAGTTGTGTG
ENST00000321612.6:c.2043_2044insTAGACAGTCATTCACAGGCCACCATTGTTAGTGAGTGAGTTGTGTG	ENSP00000370737.3:p.Lys682Ter
ENST00000460457.1:n.182_183insTAGACAGTCATTCACAGGCCACCATTGTTAGTGAGTGAGTTGTGTG
NM_000170.2:c.2043_2044insTAGACAGTCATTCACAGGCCACCATTGTTAGTGAGTGAGTTGTGTG , LRG_643t1:c.2043_2044insTAGACAGTCATTCACAGGCCACCATTGTTAGTGAGTGAGTTGTGTG	NP_000161.2:p.Lys682Ter
NM_000170.3:c.2043_2044insTAGACAGTCATTCACAGGCCACCATTGTTAGTGAGTGAGTTGTGTG MANE Select	NP_000161.2:p.Lys682Ter