Canonical Allele Identifier: CA2567924848
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648513_34648514insAAAG , CM000671.2:g.34648513_34648514insAAAG GRCh38
NC_000009.11:g.34648510_34648511insAAAG , CM000671.1:g.34648510_34648511insAAAG GRCh37
NC_000009.10:g.34638510_34638511insAAAG NCBI36
NG_009029.1:g.6876_6877insAAAG
NG_028966.1:g.1329_1330insAAAG
NG_009029.2:g.6925_6926insAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*275+57_*275+58insAAAG ENSP00000509954.1:n.*275+57_*275+58insAAAG
ENST00000378842.8:c.687+57_687+58insAAAG MANE Select ENSP00000368119.4:n.687+57_687+58insAAAG
ENST00000378842.7:c.687+57_687+58insAAAG ENSP00000368119.3:n.687+57_687+58insAAAG
ENST00000450095.6:c.360+57_360+58insAAAG ENSP00000401956.2:n.360+57_360+58insAAAG
ENST00000473506.6:c.*275+57_*275+58insAAAG ENSP00000432839.2:n.*275+57_*275+58insAAAG
ENST00000473529.5:n.846+57_846+58insAAAG
ENST00000487381.5:n.1129_1130insAAAG
ENST00000489643.6:n.519_520insAAAG
ENST00000554085.5:c.*431+57_*431+58insAAAG ENSP00000450419.1:n.*431+57_*431+58insAAAG
ENST00000554550.5:c.*307+57_*307+58insAAAG ENSP00000451435.1:n.*307+57_*307+58insAAAG
ENST00000554638.5:n.1159+57_1159+58insAAAG
ENST00000555020.5:n.900_901insAAAG
ENST00000555086.5:n.691+57_691+58insAAAG
ENST00000555214.5:n.565_566insAAAG
ENST00000555754.1:n.32+57_32+58insAAAG
ENST00000556244.1:c.674+57_674+58insAAAG
ENST00000556278.1:c.432+57_432+58insAAAG ENSP00000451792.1:n.432+57_432+58insAAAG
ENST00000557706.5:n.1249+57_1249+58insAAAG
NM_000155.3:c.687+57_687+58insAAAG NP_000146.2:n.687+57_687+58insAAAG
NM_001258332.1:c.360+57_360+58insAAAG NP_001245261.1:n.360+57_360+58insAAAG
NM_000155.4:c.687+57_687+58insAAAG MANE Select NP_000146.2:n.687+57_687+58insAAAG
NM_001258332.2:c.360+57_360+58insAAAG NP_001245261.1:n.360+57_360+58insAAAG