Canonical Allele Identifier: CA259340
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033655

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647213_34647220del , CM000671.2:g.34647213_34647220del GRCh38
NC_000009.11:g.34647210_34647217del , CM000671.1:g.34647210_34647217del GRCh37
NC_000009.10:g.34637210_34637217del NCBI36
NG_009029.1:g.5576_5583del
NG_028966.1:g.29_36del
NG_009029.2:g.5625_5632del

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.207_214del ENSP00000509954.1:p.Asp69GlufsTer20
ENST00000378842.8:c.207_214del MANE Select ENSP00000368119.4:p.Asp69GlufsTer20
ENST00000378842.7:c.207_214del ENSP00000368119.3:p.Asp69GlufsTer20
ENST00000450095.6:c.5_12del ENSP00000401956.2:p.Thr2AsnfsTer14
ENST00000465543.6:n.546_553del
ENST00000468099.2:n.247_254del
ENST00000472111.5:n.248_255del
ENST00000473506.6:c.207_214del ENSP00000432839.2:p.Asp69GlufsTer?
ENST00000473529.5:n.254_261del
ENST00000485531.1:n.200_207del
ENST00000487381.5:n.233_240del
ENST00000489643.6:n.237_244del
ENST00000554085.5:c.207_214del ENSP00000450419.1:p.Asp69GlufsTer19
ENST00000554139.5:n.260_267del
ENST00000554330.5:n.204_211del
ENST00000554550.5:c.207_214del ENSP00000451435.1:p.Asp69GlufsTer25
ENST00000554638.5:n.231_238del
ENST00000554897.5:c.207_214del ENSP00000450942.1:p.Asp69GlufsTer25
ENST00000554944.5:n.237_244del
ENST00000555020.5:n.237_244del
ENST00000555086.5:n.211_218del
ENST00000555214.5:n.216_223del
ENST00000556157.1:n.314_321del
ENST00000556244.1:c.91_98del
ENST00000556278.1:c.207_214del ENSP00000451792.1:p.Asp69GlufsTer16
ENST00000556403.5:n.220_227del
ENST00000556494.5:n.239_246del
ENST00000557541.5:n.400_407del
ENST00000557706.5:n.321_328del
NM_000155.3:c.207_214del NP_000146.2:p.Asp69GlufsTer20
NM_001258332.1:c.5_12del NP_001245261.1:p.Thr2AsnfsTer14
NM_000155.4:c.207_214del MANE Select NP_000146.2:p.Asp69GlufsTer20
NM_001258332.2:c.5_12del NP_001245261.1:p.Thr2AsnfsTer14