Canonical Allele Identifier: CA863495225
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1300340574

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647636_34647637del , CM000671.2:g.34647636_34647637del GRCh38
NC_000009.11:g.34647633_34647634del , CM000671.1:g.34647633_34647634del GRCh37
NC_000009.10:g.34637633_34637634del NCBI36
NG_009029.1:g.5999_6000del
NG_028966.1:g.452_453del
NG_009029.2:g.6048_6049del

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.328+69_328+70del ENSP00000509954.1:n.328+69_328+70del
ENST00000378842.8:c.329-21_329-20del MANE Select ENSP00000368119.4:n.329-21_329-20del
ENST00000378842.7:c.329-21_329-20del ENSP00000368119.3:n.329-21_329-20del
ENST00000450095.6:c.51-196_51-195del ENSP00000401956.2:n.51-196_51-195del
ENST00000465543.6:n.668-21_668-20del
ENST00000472111.5:n.438_439del
ENST00000473506.6:c.280-21_280-20del ENSP00000432839.2:n.280-21_280-20del
ENST00000473529.5:n.444_445del
ENST00000485531.1:n.623_624del
ENST00000487381.5:n.588-21_588-20del
ENST00000489643.6:n.282+378_282+379del
ENST00000554085.5:c.*73-21_*73-20del ENSP00000450419.1:n.*73-21_*73-20del
ENST00000554139.5:n.382-21_382-20del
ENST00000554330.5:n.345_346del
ENST00000554550.5:c.253-196_253-195del ENSP00000451435.1:n.253-196_253-195del
ENST00000554638.5:n.654_655del
ENST00000554897.5:c.253-196_253-195del ENSP00000450942.1:n.253-196_253-195del
ENST00000554944.5:n.378_379del
ENST00000555020.5:n.359-21_359-20del
ENST00000555086.5:n.333-21_333-20del
ENST00000555214.5:n.261+378_261+379del
ENST00000556157.1:n.453-21_453-20del
ENST00000556244.1:c.316-21_316-20del
ENST00000556278.1:c.252+378_252+379del ENSP00000451792.1:n.252+378_252+379del
ENST00000556403.5:n.410_411del
ENST00000556494.5:n.429_430del
ENST00000557541.5:n.473-21_473-20del
ENST00000557706.5:n.744_745del
NM_000155.3:c.329-21_329-20del NP_000146.2:n.329-21_329-20del
NM_001258332.1:c.51-196_51-195del NP_001245261.1:n.51-196_51-195del
NM_000155.4:c.329-21_329-20del MANE Select NP_000146.2:n.329-21_329-20del
NM_001258332.2:c.51-196_51-195del NP_001245261.1:n.51-196_51-195del