Canonical Allele Identifier: CA266758

Gene: GALT

Linked Data

• ClinVar Variation Id: 92515
• ClinVar RCV Id: RCV000078216 ; RCV001389960 ; RCV001831815 ; RCV003974957
• dbSNP Id: rs398123179
• ExAC: 9:34647522 GACA / G
• gnomAD v2: 9-34647522-GACA-G
• gnomAD v4: 9-34647525-GACA-G
• MyVariant Identifiers: chr9:g.34647525_34647527del (hg19) ; chr9:g.34647523_34647525del (hg19) ; chr9:g.34647525_34647527delAAC (hg19) ; chr9:g.34647528_34647530del (hg38) ; chr9:g.34647526_34647528del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647528_34647530del , CM000671.2:g.34647528_34647530del	GRCh38
NC_000009.11:g.34647525_34647527del , CM000671.1:g.34647525_34647527del	GRCh37
NC_000009.10:g.34637525_34637527del	NCBI36
NG_009029.1:g.5891_5893del
NG_028966.1:g.344_346del
NG_009029.2:g.5940_5942del

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.289_291del	ENSP00000509954.1:p.Asn97del
ENST00000378842.8:c.289_291del MANE Select	ENSP00000368119.4:p.Asn97del
ENST00000378842.7:c.289_291del	ENSP00000368119.3:p.Asn97del
ENST00000450095.6:c.50+270_50+272del	ENSP00000401956.2:n.50+270_50+272del
ENST00000465543.6:n.628_630del
ENST00000472111.5:n.330_332del
ENST00000473506.6:c.253-13_253-11del	ENSP00000432839.2:n.253-13_253-11del
ENST00000473529.5:n.336_338del
ENST00000485531.1:n.515_517del
ENST00000487381.5:n.548_550del
ENST00000489643.6:n.282+270_282+272del
ENST00000554085.5:c.*33_*35del	ENSP00000450419.1:n.*33_*35del
ENST00000554139.5:n.342_344del
ENST00000554330.5:n.250-13_250-11del
ENST00000554550.5:c.252+270_252+272del	ENSP00000451435.1:n.252+270_252+272del
ENST00000554638.5:n.546_548del
ENST00000554897.5:c.252+270_252+272del	ENSP00000450942.1:n.252+270_252+272del
ENST00000554944.5:n.283-13_283-11del
ENST00000555020.5:n.319_321del
ENST00000555086.5:n.293_295del
ENST00000555214.5:n.261+270_261+272del
ENST00000556157.1:n.413_415del
ENST00000556244.1:c.276_278del
ENST00000556278.1:c.252+270_252+272del	ENSP00000451792.1:n.252+270_252+272del
ENST00000556403.5:n.302_304del
ENST00000556494.5:n.321_323del
ENST00000557541.5:n.446-13_446-11del
ENST00000557706.5:n.636_638del
NM_000155.3:c.289_291del	NP_000146.2:p.Asn97del
NM_001258332.1:c.50+270_50+272del	NP_001245261.1:n.50+270_50+272del
NM_000155.4:c.289_291del MANE Select	NP_000146.2:p.Asn97del
NM_001258332.2:c.50+270_50+272del	NP_001245261.1:n.50+270_50+272del