Canonical Allele Identifier: CA733285484

Gene: GALE

Linked Data

• ClinVar Variation Id: 2999805
• ClinVar RCV Id: RCV003854916
• dbSNP Id: rs1351636899
• gnomAD v4: 1-23796566-GC-G
• MyVariant Identifiers: chr1:g.24123057del (hg19) ; chr1:g.23796567del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23796569del , CM000663.2:g.23796569del	GRCh38
NC_000001.10:g.24123059del , CM000663.1:g.24123059del	GRCh37
NC_000001.9:g.23995646del	NCBI36
NG_007068.1:g.9238del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.815del MANE Select	ENSP00000483375.1:p.Gly272AlafsTer?
ENST00000374497.7:c.815del	ENSP00000363621.3:p.Gly272AlafsTer?
ENST00000418277.5:c.623del	ENSP00000414719.1:p.Gly208AlafsTer?
ENST00000429356.5:c.603+130del	ENSP00000398585.1:n.603+130del
ENST00000456977.5:c.153+130del	ENSP00000397045.1:n.153+130del
ENST00000459934.5:n.1043del
ENST00000469556.1:n.319del
ENST00000481736.5:n.1219del
ENST00000617979.4:c.815del	ENSP00000483375.1:p.Gly272AlafsTer?
NM_000403.3:c.815del	NP_000394.2:p.Gly272AlafsTer?
NM_001008216.1:c.815del	NP_001008217.1:p.Gly272AlafsTer?
NM_001127621.1:c.815del	NP_001121093.1:p.Gly272AlafsTer?
NM_001008216.2:c.815del MANE Select	NP_001008217.1:p.Gly272AlafsTer?
NM_000403.4:c.815del	NP_000394.2:p.Gly272AlafsTer?
NM_001127621.2:c.815del	NP_001121093.1:p.Gly272AlafsTer?