Canonical Allele Identifier: CA266760
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 92519

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648334_34648347del , CM000671.2:g.34648334_34648347del GRCh38
NC_000009.11:g.34648331_34648344del , CM000671.1:g.34648331_34648344del GRCh37
NC_000009.10:g.34638331_34638344del NCBI36
NG_009029.1:g.6697_6710del
NG_028966.1:g.1150_1163del
NG_009029.2:g.6746_6759del

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*153_*166del
ENST00000378842.8:c.565_578del
ENST00000378842.7:c.565_578del
ENST00000450095.6:c.238_251del
ENST00000472111.5:n.821_834del
ENST00000473506.6:c.*153_*166del
ENST00000473529.5:n.724_737del
ENST00000485531.1:n.1159_1172del
ENST00000487381.5:n.950_963del
ENST00000489643.6:n.340_353del
ENST00000554085.5:c.*309_*322del
ENST00000554139.5:n.811_824del
ENST00000554550.5:c.*185_*198del
ENST00000554638.5:n.1037_1050del
ENST00000554897.5:c.*252_*265del
ENST00000554944.5:n.914_927del
ENST00000555020.5:n.721_734del
ENST00000555086.5:n.569_582del
ENST00000555214.5:n.386_399del
ENST00000556244.1:c.552_565del
ENST00000556278.1:c.310_323del
ENST00000556494.5:n.686_699del
ENST00000557706.5:n.1127_1140del
NM_000155.3:c.565_578del
NM_001258332.1:c.238_251del
NM_000155.4:c.565_578del
NM_001258332.2:c.238_251del