Canonical Allele Identifier: CA2689808721

Gene: GALT

Linked Data

• gnomAD v4: 9-34648268-GCCAATGATGTGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648269_34648281del , CM000671.2:g.34648269_34648281del	GRCh38
NC_000009.11:g.34648266_34648278del , CM000671.1:g.34648266_34648278del	GRCh37
NC_000009.10:g.34638266_34638278del	NCBI36
NG_009029.1:g.6632_6644del
NG_028966.1:g.1085_1097del
NG_009029.2:g.6681_6693del

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*153-65_*153-53del	ENSP00000509954.1:n.*153-65_*153-53del
ENST00000378842.8:c.565-65_565-53del MANE Select	ENSP00000368119.4:n.565-65_565-53del
ENST00000378842.7:c.565-65_565-53del	ENSP00000368119.3:n.565-65_565-53del
ENST00000450095.6:c.238-65_238-53del	ENSP00000401956.2:n.238-65_238-53del
ENST00000472111.5:n.821-65_821-53del
ENST00000473506.6:c.*153-65_*153-53del	ENSP00000432839.2:n.*153-65_*153-53del
ENST00000473529.5:n.724-65_724-53del
ENST00000485531.1:n.1159-65_1159-53del
ENST00000487381.5:n.950-65_950-53del
ENST00000489643.6:n.340-65_340-53del
ENST00000554085.5:c.*309-65_*309-53del	ENSP00000450419.1:n.*309-65_*309-53del
ENST00000554139.5:n.811-65_811-53del
ENST00000554550.5:c.*185-65_*185-53del	ENSP00000451435.1:n.*185-65_*185-53del
ENST00000554638.5:n.1037-65_1037-53del
ENST00000554897.5:c.*252-65_*252-53del	ENSP00000450942.1:n.*252-65_*252-53del
ENST00000554944.5:n.914-65_914-53del
ENST00000555020.5:n.721-65_721-53del
ENST00000555086.5:n.569-65_569-53del
ENST00000555214.5:n.386-65_386-53del
ENST00000556244.1:c.552-65_552-53del
ENST00000556278.1:c.310-65_310-53del	ENSP00000451792.1:n.310-65_310-53del
ENST00000556494.5:n.686-65_686-53del
ENST00000557706.5:n.1127-65_1127-53del
NM_000155.3:c.565-65_565-53del	NP_000146.2:n.565-65_565-53del
NM_001258332.1:c.238-65_238-53del	NP_001245261.1:n.238-65_238-53del
NM_000155.4:c.565-65_565-53del MANE Select	NP_000146.2:n.565-65_565-53del
NM_001258332.2:c.238-65_238-53del	NP_001245261.1:n.238-65_238-53del