Canonical Allele Identifier: CA2689809325
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648677_34648681del , CM000671.2:g.34648677_34648681del GRCh38
NC_000009.11:g.34648674_34648678del , CM000671.1:g.34648674_34648678del GRCh37
NC_000009.10:g.34638674_34638678del NCBI36
NG_009029.1:g.7040_7044del
NG_028966.1:g.1493_1497del
NG_009029.2:g.7089_7093del

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*276-85_*276-81del ENSP00000509954.1:n.*276-85_*276-81del
ENST00000378842.8:c.688-85_688-81del MANE Select ENSP00000368119.4:n.688-85_688-81del
ENST00000378842.7:c.688-85_688-81del ENSP00000368119.3:n.688-85_688-81del
ENST00000450095.6:c.361-85_361-81del ENSP00000401956.2:n.361-85_361-81del
ENST00000473506.6:c.*276-85_*276-81del ENSP00000432839.2:n.*276-85_*276-81del
ENST00000473529.5:n.847-85_847-81del
ENST00000487381.5:n.1293_1297del
ENST00000489643.6:n.683_687del
ENST00000554085.5:c.*432-85_*432-81del ENSP00000450419.1:n.*432-85_*432-81del
ENST00000554550.5:c.*308-85_*308-81del ENSP00000451435.1:n.*308-85_*308-81del
ENST00000554638.5:n.1160-85_1160-81del
ENST00000555020.5:n.1064_1068del
ENST00000555086.5:n.692-85_692-81del
ENST00000555754.1:n.33-85_33-81del
ENST00000556244.1:c.675-85_675-81del
ENST00000556278.1:c.432+221_432+225del ENSP00000451792.1:n.432+221_432+225del
ENST00000557706.5:n.1250-85_1250-81del
NM_000155.3:c.688-85_688-81del NP_000146.2:n.688-85_688-81del
NM_001258332.1:c.361-85_361-81del NP_001245261.1:n.361-85_361-81del
NM_000155.4:c.688-85_688-81del MANE Select NP_000146.2:n.688-85_688-81del
NM_001258332.2:c.361-85_361-81del NP_001245261.1:n.361-85_361-81del