Canonical Allele Identifier: CA2499219851

Gene: GALT

Linked Data

• ClinVar Variation Id: 1067186
• ClinVar RCV Id: RCV001378380
• dbSNP Id: rs2132343638

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648113_34648116del , CM000671.2:g.34648113_34648116del	GRCh38
NC_000009.11:g.34648110_34648113del , CM000671.1:g.34648110_34648113del	GRCh37
NC_000009.10:g.34638110_34638113del	NCBI36
NG_009029.1:g.6476_6479del
NG_028966.1:g.929_932del
NG_009029.2:g.6525_6528del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*96-2_*97del
ENST00000378842.8:c.508-2_509del
ENST00000378842.7:c.508-2_509del
ENST00000450095.6:c.181-2_182del
ENST00000465543.6:n.847-2_848del
ENST00000472111.5:n.764-2_765del
ENST00000473506.6:c.*96-2_*97del
ENST00000473529.5:n.665_668del
ENST00000485531.1:n.1100_1103del
ENST00000487381.5:n.893-2_894del
ENST00000489643.6:n.283-2_284del
ENST00000554085.5:c.*252-2_*253del
ENST00000554139.5:n.752_755del
ENST00000554550.5:c.*128-2_*129del
ENST00000554638.5:n.980-2_981del
ENST00000554897.5:c.*193_*196del	ENSP00000450942.1:n.*193_*196del
ENST00000554944.5:n.855_858del
ENST00000555020.5:n.664-2_665del
ENST00000555086.5:n.512-2_513del
ENST00000555214.5:n.327_330del
ENST00000556244.1:c.495-2_496del
ENST00000556278.1:c.253-2_254del
ENST00000556494.5:n.629-2_630del
ENST00000557706.5:n.1070-2_1071del
NM_000155.3:c.508-2_509del
NM_001258332.1:c.181-2_182del
NM_000155.4:c.508-2_509del
NM_001258332.2:c.181-2_182del