Canonical Allele Identifier: CA10603759

Gene: GALT

Linked Data

• ClinVar Variation Id: 280965
• ClinVar RCV Id: RCV000299758
• dbSNP Id: rs886042061
• MyVariant Identifiers: chr9:g.34646772_34646773insA (hg19) ; chr9:g.34646775_34646776insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34646775_34646776insA , CM000671.2:g.34646775_34646776insA	GRCh38
NC_000009.11:g.34646772_34646773insA , CM000671.1:g.34646772_34646773insA	GRCh37
NC_000009.10:g.34636772_34636773insA	NCBI36
NG_009029.1:g.5138_5139insA
NG_009029.2:g.5187_5188insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.71_72insA	ENSP00000509954.1:p.Phe24LeufsTer17
ENST00000378842.8:c.71_72insA MANE Select	ENSP00000368119.4:p.Phe24LeufsTer17
ENST00000378842.7:c.71_72insA	ENSP00000368119.3:p.Phe24LeufsTer17
ENST00000450095.6:c.-132_-131insA	ENSP00000401956.2:n.-132_-131insA
ENST00000465543.6:n.108_109insA
ENST00000468099.2:n.143_144insA
ENST00000472111.5:n.112_113insA
ENST00000473506.6:c.71_72insA	ENSP00000432839.2:p.Phe24LeufsTer17
ENST00000473529.5:n.118_119insA
ENST00000487381.5:n.97_98insA
ENST00000489643.6:n.101_102insA
ENST00000554085.5:c.71_72insA	ENSP00000450419.1:p.Phe24LeufsTer17
ENST00000554139.5:n.124_125insA
ENST00000554550.5:c.71_72insA	ENSP00000451435.1:p.Phe24LeufsTer17
ENST00000554638.5:n.95_96insA
ENST00000554897.5:c.71_72insA	ENSP00000450942.1:p.Phe24LeufsTer17
ENST00000554944.5:n.101_102insA
ENST00000555020.5:n.101_102insA
ENST00000555214.5:n.80_81insA
ENST00000556278.1:c.71_72insA	ENSP00000451792.1:p.Phe24LeufsTer17
ENST00000556403.5:n.3_4insA
ENST00000557541.5:n.131_132insA
ENST00000605275.1:n.307_308insA
NM_000155.3:c.71_72insA	NP_000146.2:p.Phe24LeufsTer17
NM_001258332.1:c.-132_-131insA	NP_001245261.1:n.-132_-131insA
NM_000155.4:c.71_72insA MANE Select	NP_000146.2:p.Phe24LeufsTer17
NM_001258332.2:c.-132_-131insA	NP_001245261.1:n.-132_-131insA