Canonical Allele Identifier: CA1845639782
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648841_34648844delinsTGCC , CM000671.2:g.34648841_34648844delinsTGCC GRCh38
NC_000009.11:g.34648838_34648841delinsTGCC , CM000671.1:g.34648838_34648841delinsTGCC GRCh37
NC_000009.10:g.34638838_34638841delinsTGCC NCBI36
NG_009029.1:g.7204_7207delinsTGCC
NG_028966.1:g.1657_1660delinsTGCC
NG_009029.2:g.7253_7256delinsTGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*355_*358delinsTGCC ENSP00000509954.1:n.*355_*358delinsTGCC
ENST00000378842.8:c.767_770delinsTGCC MANE Select ENSP00000368119.4:p.Leu256=
ENST00000378842.7:c.767_770delinsTGCC ENSP00000368119.3:p.Leu256=
ENST00000450095.6:c.440_443delinsTGCC ENSP00000401956.2:p.Leu147=
ENST00000473506.6:c.*355_*358delinsTGCC ENSP00000432839.2:n.*355_*358delinsTGCC
ENST00000489643.6:n.847_850delinsTGCC
ENST00000554085.5:c.*511_*514delinsTGCC ENSP00000450419.1:n.*511_*514delinsTGCC
ENST00000554550.5:c.*387_*390delinsTGCC ENSP00000451435.1:n.*387_*390delinsTGCC
ENST00000554638.5:n.1239_1242delinsTGCC
ENST00000555020.5:n.1228_1231delinsTGCC
ENST00000555086.5:n.771_774delinsTGCC
ENST00000555754.1:n.112_115delinsTGCC
ENST00000556244.1:c.754_757delinsTGCC
ENST00000556278.1:c.432+385_432+388delinsTGCC ENSP00000451792.1:n.432+385_432+388delinsTGCC
ENST00000557706.5:n.1329_1332delinsTGCC
NM_000155.3:c.767_770delinsTGCC NP_000146.2:p.Leu256=
NM_001258332.1:c.440_443delinsTGCC NP_001245261.1:p.Leu147=
NM_000155.4:c.767_770delinsTGCC MANE Select NP_000146.2:p.Leu256=
NM_001258332.2:c.440_443delinsTGCC NP_001245261.1:p.Leu147=