Canonical Allele Identifier: CA2275671663
Gene: GALK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75764625_75764676delinsCCACGGTGGCCGGAGGCGCGGAGTGTCCCCTTCTGCGTGGCACACAGGGCCT , CM000679.2:g.75764625_75764676delinsCCACGGTGGCCGGAGGCGCGGAGTGTCCCCTTCTGCGTGGCACACAGGGCCT GRCh38
NC_000017.10:g.73760706_73760757delinsCCACGGTGGCCGGAGGCGCGGAGTGTCCCCTTCTGCGTGGCACACAGGGCCT , CM000679.1:g.73760706_73760757delinsCCACGGTGGCCGGAGGCGCGGAGTGTCCCCTTCTGCGTGGCACACAGGGCCT GRCh37
NC_000017.9:g.71272301_71272352delinsCCACGGTGGCCGGAGGCGCGGAGTGTCCCCTTCTGCGTGGCACACAGGGCCT NCBI36
NG_008079.1:g.5524_5575delinsAGGCCCTGTGTGCCACGCAGAAGGGGACACTCCGCGCCTCCGGCCACCGTGG
NG_008079.2:g.5524_5575delinsAGGCCCTGTGTGCCACGCAGAAGGGGACACTCCGCGCCTCCGGCCACCGTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000587707.2:c.165+296_165+347delinsAGGCCCTGTGTGCCACGCAGAAGGGGACACTCCGCGCCTCCGGCCACCGTGG ENSP00000468341.2:n.165+296_165+347delinsAGGCCCTGTGTGCCACGCAG...
ENST00000592997.6:c.165+296_165+347delinsAGGCCCTGTGTGCCACGCAGAAGGGGACACTCCGCGCCTCCGGCCACCGTGG ENSP00000464765.2:n.165+296_165+347delinsAGGCCCTGTGTGCCACGCAG...
ENST00000588479.6:c.165+296_165+347delinsAGGCCCTGTGTGCCACGCAGAAGGGGACACTCCGCGCCTCCGGCCACCGTGG MANE Select ENSP00000465930.1:n.165+296_165+347delinsAGGCCCTGTGTGCCACGCAG...
ENST00000225614.6:c.165+296_165+347delinsAGGCCCTGTGTGCCACGCAGAAGGGGACACTCCGCGCCTCCGGCCACCGTGG ENSP00000225614.1:n.165+296_165+347delinsAGGCCCTGTGTGCCACGCAG...
ENST00000586244.1:c.165+296_165+347delinsAGGCCCTGTGTGCCACGCAGAAGGGGACACTCCGCGCCTCCGGCCACCGTGG ENSP00000468288.1:n.165+296_165+347delinsAGGCCCTGTGTGCCACGCAG...
ENST00000588479.5:c.165+296_165+347delinsAGGCCCTGTGTGCCACGCAGAAGGGGACACTCCGCGCCTCCGGCCACCGTGG ENSP00000465930.1:n.165+296_165+347delinsAGGCCCTGTGTGCCACGCAG...
ENST00000589030.1:n.162+296_162+347delinsAGGCCCTGTGTGCCACGCAGAAGGGGACACTCCGCGCCTCCGGCCACCGTGG
ENST00000592494.1:n.186+296_186+347delinsAGGCCCTGTGTGCCACGCAGAAGGGGACACTCCGCGCCTCCGGCCACCGTGG
NM_000154.1:c.165+296_165+347delinsAGGCCCTGTGTGCCACGCAGAAGGGGACACTCCGCGCCTCCGGCCACCGTGG NP_000145.1:n.165+296_165+347delinsAGGCCCTGTGTGCCACGCAGAAGGGG...
NM_000154.2:c.165+296_165+347delinsAGGCCCTGTGTGCCACGCAGAAGGGGACACTCCGCGCCTCCGGCCACCGTGG MANE Select NP_000145.1:n.165+296_165+347delinsAGGCCCTGTGTGCCACGCAGAAGGGG...
NM_001381985.1:c.165+296_165+347delinsAGGCCCTGTGTGCCACGCAGAAGGGGACACTCCGCGCCTCCGGCCACCGTGG NP_001368914.1:n.165+296_165+347delinsAGGCCCTGTGTGCCACGCAGAAG...