Canonical Allele Identifier: CA2275671689
Gene: GALK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75764676_75764678delinsTCA , CM000679.2:g.75764676_75764678delinsTCA GRCh38
NC_000017.10:g.73760757_73760759delinsTCA , CM000679.1:g.73760757_73760759delinsTCA GRCh37
NC_000017.9:g.71272352_71272354delinsTCA NCBI36
NG_008079.1:g.5522_5524delinsTGA
NG_008079.2:g.5522_5524delinsTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000587707.2:c.165+294_165+296delinsTGA ENSP00000468341.2:n.165+294_165+296delinsTGA
ENST00000592997.6:c.165+294_165+296delinsTGA ENSP00000464765.2:n.165+294_165+296delinsTGA
ENST00000588479.6:c.165+294_165+296delinsTGA MANE Select ENSP00000465930.1:n.165+294_165+296delinsTGA
ENST00000225614.6:c.165+294_165+296delinsTGA ENSP00000225614.1:n.165+294_165+296delinsTGA
ENST00000586244.1:c.165+294_165+296delinsTGA ENSP00000468288.1:n.165+294_165+296delinsTGA
ENST00000588479.5:c.165+294_165+296delinsTGA ENSP00000465930.1:n.165+294_165+296delinsTGA
ENST00000589030.1:n.162+294_162+296delinsTGA
ENST00000592494.1:n.186+294_186+296delinsTGA
NM_000154.1:c.165+294_165+296delinsTGA NP_000145.1:n.165+294_165+296delinsTGA
NM_000154.2:c.165+294_165+296delinsTGA MANE Select NP_000145.1:n.165+294_165+296delinsTGA
NM_001381985.1:c.165+294_165+296delinsTGA NP_001368914.1:n.165+294_165+296delinsTGA