Canonical Allele Identifier: CA2783504153
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34646840_34646843del , CM000671.2:g.34646840_34646843del GRCh38
NC_000009.11:g.34646837_34646840del , CM000671.1:g.34646837_34646840del GRCh37
NC_000009.10:g.34636837_34636840del NCBI36
NG_009029.1:g.5203_5206del
NG_009029.2:g.5252_5255del

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.82+54_82+57del ENSP00000509954.1:n.82+54_82+57del
ENST00000378842.8:c.82+54_82+57del MANE Select ENSP00000368119.4:n.82+54_82+57del
ENST00000378842.7:c.82+54_82+57del ENSP00000368119.3:n.82+54_82+57del
ENST00000450095.6:c.-121+54_-121+57del ENSP00000401956.2:n.-121+54_-121+57del
ENST00000465543.6:n.173_176del
ENST00000468099.2:n.154+54_154+57del
ENST00000472111.5:n.123+54_123+57del
ENST00000473506.6:c.82+54_82+57del ENSP00000432839.2:n.82+54_82+57del
ENST00000473529.5:n.129+54_129+57del
ENST00000487381.5:n.108+54_108+57del
ENST00000489643.6:n.112+54_112+57del
ENST00000554085.5:c.82+54_82+57del ENSP00000450419.1:n.82+54_82+57del
ENST00000554139.5:n.135+54_135+57del
ENST00000554330.5:n.52_55del
ENST00000554550.5:c.82+54_82+57del ENSP00000451435.1:n.82+54_82+57del
ENST00000554638.5:n.106+54_106+57del
ENST00000554897.5:c.82+54_82+57del ENSP00000450942.1:n.82+54_82+57del
ENST00000554944.5:n.112+54_112+57del
ENST00000555020.5:n.112+54_112+57del
ENST00000555086.5:n.59_62del
ENST00000555214.5:n.91+54_91+57del
ENST00000556278.1:c.82+54_82+57del ENSP00000451792.1:n.82+54_82+57del
ENST00000556403.5:n.68_71del
ENST00000556494.5:n.35_38del
ENST00000557541.5:n.196_199del
ENST00000605275.1:n.372_375del
NM_000155.3:c.82+54_82+57del NP_000146.2:n.82+54_82+57del
NM_001258332.1:c.-121+54_-121+57del NP_001245261.1:n.-121+54_-121+57del
NM_000155.4:c.82+54_82+57del MANE Select NP_000146.2:n.82+54_82+57del
NM_001258332.2:c.-121+54_-121+57del NP_001245261.1:n.-121+54_-121+57del