Canonical Allele Identifier: CA2695210530

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648363del , CM000671.2:g.34648363del	GRCh38
NC_000009.11:g.34648360del , CM000671.1:g.34648360del	GRCh37
NC_000009.10:g.34638360del	NCBI36
NG_009029.1:g.6726del
NG_028966.1:g.1179del
NG_009029.2:g.6775del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*182del	ENSP00000509954.1:n.*182del
ENST00000378842.8:c.594del MANE Select	ENSP00000368119.4:p.Ile198MetfsTer21
ENST00000378842.7:c.594del	ENSP00000368119.3:p.Ile198MetfsTer21
ENST00000450095.6:c.267del	ENSP00000401956.2:p.Ile89MetfsTer21
ENST00000472111.5:n.850del
ENST00000473506.6:c.*182del	ENSP00000432839.2:n.*182del
ENST00000473529.5:n.753del
ENST00000485531.1:n.1188del
ENST00000487381.5:n.979del
ENST00000489643.6:n.369del
ENST00000554085.5:c.*338del	ENSP00000450419.1:n.*338del
ENST00000554139.5:n.840del
ENST00000554550.5:c.*214del	ENSP00000451435.1:n.*214del
ENST00000554638.5:n.1066del
ENST00000554897.5:c.*281del	ENSP00000450942.1:n.*281del
ENST00000554944.5:n.943del
ENST00000555020.5:n.750del
ENST00000555086.5:n.598del
ENST00000555214.5:n.415del
ENST00000556244.1:c.581del
ENST00000556278.1:c.339del	ENSP00000451792.1:p.Ile113MetfsTer21
ENST00000556494.5:n.715del
ENST00000557706.5:n.1156del
NM_000155.3:c.594del	NP_000146.2:p.Ile198MetfsTer21
NM_001258332.1:c.267del	NP_001245261.1:p.Ile89MetfsTer21
NM_000155.4:c.594del MANE Select	NP_000146.2:p.Ile198MetfsTer21
NM_001258332.2:c.267del	NP_001245261.1:p.Ile89MetfsTer21