Canonical Allele Identifier: CA1845636227

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647524_34647538delinsTGACAACGACTTCCC , CM000671.2:g.34647524_34647538delinsTGACAACGACTTCCC	GRCh38
NC_000009.11:g.34647521_34647535delinsTGACAACGACTTCCC , CM000671.1:g.34647521_34647535delinsTGACAACGACTTCCC	GRCh37
NC_000009.10:g.34637521_34637535delinsTGACAACGACTTCCC	NCBI36
NG_009029.1:g.5887_5901delinsTGACAACGACTTCCC
NG_028966.1:g.340_354delinsTGACAACGACTTCCC
NG_009029.2:g.5936_5950delinsTGACAACGACTTCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.285_299delinsTGACAACGACTTCCC	ENSP00000509954.1:p.Phe95=
ENST00000378842.8:c.285_299delinsTGACAACGACTTCCC MANE Select	ENSP00000368119.4:p.Phe95=
ENST00000378842.7:c.285_299delinsTGACAACGACTTCCC	ENSP00000368119.3:p.Phe95=
ENST00000450095.6:c.50+266_50+280delinsTGACAACGACTTCCC	ENSP00000401956.2:n.50+266_50+280delinsTG...
ENST00000465543.6:n.624_638delinsTGACAACGACTTCCC
ENST00000472111.5:n.326_340delinsTGACAACGACTTCCC
ENST00000473506.6:c.253-17_253-3delinsTGACAACGACTTCCC	ENSP00000432839.2:n.253-17_253-3delinsTGA...
ENST00000473529.5:n.332_346delinsTGACAACGACTTCCC
ENST00000485531.1:n.511_525delinsTGACAACGACTTCCC
ENST00000487381.5:n.544_558delinsTGACAACGACTTCCC
ENST00000489643.6:n.282+266_282+280delinsTGACAACGACTTCCC
ENST00000554085.5:c.*29_*43delinsTGACAACGACTTCCC	ENSP00000450419.1:n.*29_*43delinsTGACAACG...
ENST00000554139.5:n.338_352delinsTGACAACGACTTCCC
ENST00000554330.5:n.250-17_250-3delinsTGACAACGACTTCCC
ENST00000554550.5:c.252+266_252+280delinsTGACAACGACTTCCC	ENSP00000451435.1:n.252+266_252+280delins...
ENST00000554638.5:n.542_556delinsTGACAACGACTTCCC
ENST00000554897.5:c.252+266_252+280delinsTGACAACGACTTCCC	ENSP00000450942.1:n.252+266_252+280delins...
ENST00000554944.5:n.283-17_283-3delinsTGACAACGACTTCCC
ENST00000555020.5:n.315_329delinsTGACAACGACTTCCC
ENST00000555086.5:n.289_303delinsTGACAACGACTTCCC
ENST00000555214.5:n.261+266_261+280delinsTGACAACGACTTCCC
ENST00000556157.1:n.409_423delinsTGACAACGACTTCCC
ENST00000556244.1:c.272_286delinsTGACAACGACTTCCC
ENST00000556278.1:c.252+266_252+280delinsTGACAACGACTTCCC	ENSP00000451792.1:n.252+266_252+280delins...
ENST00000556403.5:n.298_312delinsTGACAACGACTTCCC
ENST00000556494.5:n.317_331delinsTGACAACGACTTCCC
ENST00000557541.5:n.446-17_446-3delinsTGACAACGACTTCCC
ENST00000557706.5:n.632_646delinsTGACAACGACTTCCC
NM_000155.3:c.285_299delinsTGACAACGACTTCCC	NP_000146.2:p.Phe95=
NM_001258332.1:c.50+266_50+280delinsTGACAACGACTTCCC	NP_001245261.1:n.50+266_50+280delinsTGACA...
NM_000155.4:c.285_299delinsTGACAACGACTTCCC MANE Select	NP_000146.2:p.Phe95=
NM_001258332.2:c.50+266_50+280delinsTGACAACGACTTCCC	NP_001245261.1:n.50+266_50+280delinsTGACA...