Canonical Allele Identifier: CA2538438752
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648712del , CM000671.2:g.34648712del GRCh38
NC_000009.11:g.34648709del , CM000671.1:g.34648709del GRCh37
NC_000009.10:g.34638709del NCBI36
NG_009029.1:g.7075del
NG_028966.1:g.1528del
NG_009029.2:g.7124del

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*276-50del ENSP00000509954.1:n.*276-50del
ENST00000378842.8:c.688-50del MANE Select ENSP00000368119.4:n.688-50del
ENST00000378842.7:c.688-50del ENSP00000368119.3:n.688-50del
ENST00000450095.6:c.361-50del ENSP00000401956.2:n.361-50del
ENST00000473506.6:c.*276-50del ENSP00000432839.2:n.*276-50del
ENST00000473529.5:n.847-50del
ENST00000487381.5:n.1328del
ENST00000489643.6:n.718del
ENST00000554085.5:c.*432-50del ENSP00000450419.1:n.*432-50del
ENST00000554550.5:c.*308-50del ENSP00000451435.1:n.*308-50del
ENST00000554638.5:n.1160-50del
ENST00000555020.5:n.1099del
ENST00000555086.5:n.692-50del
ENST00000555754.1:n.33-50del
ENST00000556244.1:c.675-50del
ENST00000556278.1:c.432+256del ENSP00000451792.1:n.432+256del
ENST00000557706.5:n.1250-50del
NM_000155.3:c.688-50del NP_000146.2:n.688-50del
NM_001258332.1:c.361-50del NP_001245261.1:n.361-50del
NM_000155.4:c.688-50del MANE Select NP_000146.2:n.688-50del
NM_001258332.2:c.361-50del NP_001245261.1:n.361-50del