Canonical Allele Identifier: CA2689808553

Gene: GALT

Linked Data

• ClinVar Variation Id: 2963491
• ClinVar RCV Id: RCV003823145
• gnomAD v4: 9-34647268-TAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647271_34647272del , CM000671.2:g.34647271_34647272del	GRCh38
NC_000009.11:g.34647268_34647269del , CM000671.1:g.34647268_34647269del	GRCh37
NC_000009.10:g.34637268_34637269del	NCBI36
NG_009029.1:g.5634_5635del
NG_028966.1:g.87_88del
NG_009029.2:g.5683_5684del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.252+13_252+14del	ENSP00000509954.1:n.252+13_252+14del
ENST00000378842.8:c.252+13_252+14del MANE Select	ENSP00000368119.4:n.252+13_252+14del
ENST00000378842.7:c.252+13_252+14del	ENSP00000368119.3:n.252+13_252+14del
ENST00000450095.6:c.50+13_50+14del	ENSP00000401956.2:n.50+13_50+14del
ENST00000465543.6:n.591+13_591+14del
ENST00000468099.2:n.305_306del
ENST00000472111.5:n.293+13_293+14del
ENST00000473506.6:c.252+13_252+14del	ENSP00000432839.2:n.252+13_252+14del
ENST00000473529.5:n.299+13_299+14del
ENST00000485531.1:n.258_259del
ENST00000487381.5:n.291_292del
ENST00000489643.6:n.282+13_282+14del
ENST00000554085.5:c.252+13_252+14del	ENSP00000450419.1:n.252+13_252+14del
ENST00000554139.5:n.305+13_305+14del
ENST00000554330.5:n.249+13_249+14del
ENST00000554550.5:c.252+13_252+14del	ENSP00000451435.1:n.252+13_252+14del
ENST00000554638.5:n.289_290del
ENST00000554897.5:c.252+13_252+14del	ENSP00000450942.1:n.252+13_252+14del
ENST00000554944.5:n.282+13_282+14del
ENST00000555020.5:n.282+13_282+14del
ENST00000555086.5:n.256+13_256+14del
ENST00000555214.5:n.261+13_261+14del
ENST00000556157.1:n.359+13_359+14del
ENST00000556244.1:c.136+13_136+14del
ENST00000556278.1:c.252+13_252+14del	ENSP00000451792.1:n.252+13_252+14del
ENST00000556403.5:n.265+13_265+14del
ENST00000556494.5:n.284+13_284+14del
ENST00000557541.5:n.445+13_445+14del
ENST00000557706.5:n.379_380del
NM_000155.3:c.252+13_252+14del	NP_000146.2:n.252+13_252+14del
NM_001258332.1:c.50+13_50+14del	NP_001245261.1:n.50+13_50+14del
NM_000155.4:c.252+13_252+14del MANE Select	NP_000146.2:n.252+13_252+14del
NM_001258332.2:c.50+13_50+14del	NP_001245261.1:n.50+13_50+14del