Canonical Allele Identifier: CA2719562344
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs2132341875

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647263_34647264insTACGATAGCACCTTCCTGTTTGACAACGACTT , CM000671.2:g.34647263_34647264insTACGATAGCACCTTCCTGTTTGACAACGACTT GRCh38
NC_000009.11:g.34647260_34647261insTACGATAGCACCTTCCTGTTTGACAACGACTT , CM000671.1:g.34647260_34647261insTACGATAGCACCTTCCTGTTTGACAACGACTT GRCh37
NC_000009.10:g.34637260_34637261insTACGATAGCACCTTCCTGTTTGACAACGACTT NCBI36
NG_009029.1:g.5626_5627insTACGATAGCACCTTCCTGTTTGACAACGACTT
NG_028966.1:g.79_80insTACGATAGCACCTTCCTGTTTGACAACGACTT
NG_009029.2:g.5675_5676insTACGATAGCACCTTCCTGTTTGACAACGACTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.252+5_252+6insTACGATAGCACCTTCCTGTTTGACAACGACTT ENSP00000509954.1:n.252+5_252+6insTACGATAGCACCTTCCTGTTTGACAAC...
ENST00000378842.8:c.252+5_252+6insTACGATAGCACCTTCCTGTTTGACAACGACTT MANE Select ENSP00000368119.4:n.252+5_252+6insTACGATAGCACCTTCCTGTTTGACAAC...
ENST00000378842.7:c.252+5_252+6insTACGATAGCACCTTCCTGTTTGACAACGACTT ENSP00000368119.3:n.252+5_252+6insTACGATAGCACCTTCCTGTTTGACAAC...
ENST00000450095.6:c.50+5_50+6insTACGATAGCACCTTCCTGTTTGACAACGACTT ENSP00000401956.2:n.50+5_50+6insTACGATAGCACCTTCCTGTTTGACAACGA...
ENST00000465543.6:n.591+5_591+6insTACGATAGCACCTTCCTGTTTGACAACGACTT
ENST00000468099.2:n.297_298insTACGATAGCACCTTCCTGTTTGACAACGACTT
ENST00000472111.5:n.293+5_293+6insTACGATAGCACCTTCCTGTTTGACAACGACTT
ENST00000473506.6:c.252+5_252+6insTACGATAGCACCTTCCTGTTTGACAACGACTT ENSP00000432839.2:n.252+5_252+6insTACGATAGCACCTTCCTGTTTGACAAC...
ENST00000473529.5:n.299+5_299+6insTACGATAGCACCTTCCTGTTTGACAACGACTT
ENST00000485531.1:n.250_251insTACGATAGCACCTTCCTGTTTGACAACGACTT
ENST00000487381.5:n.283_284insTACGATAGCACCTTCCTGTTTGACAACGACTT
ENST00000489643.6:n.282+5_282+6insTACGATAGCACCTTCCTGTTTGACAACGACTT
ENST00000554085.5:c.252+5_252+6insTACGATAGCACCTTCCTGTTTGACAACGACTT ENSP00000450419.1:n.252+5_252+6insTACGATAGCACCTTCCTGTTTGACAAC...
ENST00000554139.5:n.305+5_305+6insTACGATAGCACCTTCCTGTTTGACAACGACTT
ENST00000554330.5:n.249+5_249+6insTACGATAGCACCTTCCTGTTTGACAACGACTT
ENST00000554550.5:c.252+5_252+6insTACGATAGCACCTTCCTGTTTGACAACGACTT ENSP00000451435.1:n.252+5_252+6insTACGATAGCACCTTCCTGTTTGACAAC...
ENST00000554638.5:n.281_282insTACGATAGCACCTTCCTGTTTGACAACGACTT
ENST00000554897.5:c.252+5_252+6insTACGATAGCACCTTCCTGTTTGACAACGACTT ENSP00000450942.1:n.252+5_252+6insTACGATAGCACCTTCCTGTTTGACAAC...
ENST00000554944.5:n.282+5_282+6insTACGATAGCACCTTCCTGTTTGACAACGACTT
ENST00000555020.5:n.282+5_282+6insTACGATAGCACCTTCCTGTTTGACAACGACTT
ENST00000555086.5:n.256+5_256+6insTACGATAGCACCTTCCTGTTTGACAACGACTT
ENST00000555214.5:n.261+5_261+6insTACGATAGCACCTTCCTGTTTGACAACGACTT
ENST00000556157.1:n.359+5_359+6insTACGATAGCACCTTCCTGTTTGACAACGACTT
ENST00000556244.1:c.136+5_136+6insTACGATAGCACCTTCCTGTTTGACAACGACTT
ENST00000556278.1:c.252+5_252+6insTACGATAGCACCTTCCTGTTTGACAACGACTT ENSP00000451792.1:n.252+5_252+6insTACGATAGCACCTTCCTGTTTGACAAC...
ENST00000556403.5:n.265+5_265+6insTACGATAGCACCTTCCTGTTTGACAACGACTT
ENST00000556494.5:n.284+5_284+6insTACGATAGCACCTTCCTGTTTGACAACGACTT
ENST00000557541.5:n.445+5_445+6insTACGATAGCACCTTCCTGTTTGACAACGACTT
ENST00000557706.5:n.371_372insTACGATAGCACCTTCCTGTTTGACAACGACTT
NM_000155.3:c.252+5_252+6insTACGATAGCACCTTCCTGTTTGACAACGACTT NP_000146.2:n.252+5_252+6insTACGATAGCACCTTCCTGTTTGACAACGACTT
NM_001258332.1:c.50+5_50+6insTACGATAGCACCTTCCTGTTTGACAACGACTT NP_001245261.1:n.50+5_50+6insTACGATAGCACCTTCCTGTTTGACAACGACTT...
NM_000155.4:c.252+5_252+6insTACGATAGCACCTTCCTGTTTGACAACGACTT MANE Select NP_000146.2:n.252+5_252+6insTACGATAGCACCTTCCTGTTTGACAACGACTT
NM_001258332.2:c.50+5_50+6insTACGATAGCACCTTCCTGTTTGACAACGACTT NP_001245261.1:n.50+5_50+6insTACGATAGCACCTTCCTGTTTGACAACGACTT...