Canonical Allele Identifier: CA2573144586

Gene: GALT

Linked Data

• ClinVar Variation Id: 1454503
• ClinVar RCV Id: RCV001941906
• dbSNP Id: rs2132343017

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647838_34647842del , CM000671.2:g.34647838_34647842del	GRCh38
NC_000009.11:g.34647835_34647839del , CM000671.1:g.34647835_34647839del	GRCh37
NC_000009.10:g.34637835_34637839del	NCBI36
NG_009029.1:g.6201_6205del
NG_028966.1:g.654_658del
NG_009029.2:g.6250_6254del

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.335_339del	ENSP00000509954.1:p.Ser112CysfsTer?
ENST00000378842.8:c.384_388del MANE Select	ENSP00000368119.4:p.Met129LeufsTer16
ENST00000378842.7:c.384_388del	ENSP00000368119.3:p.Met129LeufsTer16
ENST00000450095.6:c.57_61del	ENSP00000401956.2:p.Met20LeufsTer16
ENST00000465543.6:n.723_727del
ENST00000472111.5:n.640_644del
ENST00000473506.6:c.335_339del	ENSP00000432839.2:p.Ser112CysfsTer?
ENST00000473529.5:n.520_524del
ENST00000485531.1:n.825_829del
ENST00000487381.5:n.769_773del
ENST00000489643.6:n.283-277_283-273del
ENST00000554085.5:c.*128_*132del	ENSP00000450419.1:n.*128_*132del
ENST00000554139.5:n.563_567del
ENST00000554330.5:n.547_551del
ENST00000554550.5:c.*4_*8del	ENSP00000451435.1:n.*4_*8del
ENST00000554638.5:n.856_860del
ENST00000554897.5:c.*4_*8del	ENSP00000450942.1:n.*4_*8del
ENST00000554944.5:n.580_584del
ENST00000555020.5:n.540_544del
ENST00000555086.5:n.388_392del
ENST00000555214.5:n.262-210_262-206del
ENST00000556244.1:c.371_375del
ENST00000556278.1:c.253-277_253-273del	ENSP00000451792.1:n.253-277_253-273del
ENST00000556494.5:n.505_509del
ENST00000557541.5:n.528_532del
ENST00000557706.5:n.946_950del
NM_000155.3:c.384_388del	NP_000146.2:p.Met129LeufsTer16
NM_001258332.1:c.57_61del	NP_001245261.1:p.Met20LeufsTer16
NM_000155.4:c.384_388del MANE Select	NP_000146.2:p.Met129LeufsTer16
NM_001258332.2:c.57_61del	NP_001245261.1:p.Met20LeufsTer16