Canonical Allele Identifier: CA2742819490

Gene: GALE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23796539del , CM000663.2:g.23796539del	GRCh38
NC_000001.10:g.24123029del , CM000663.1:g.24123029del	GRCh37
NC_000001.9:g.23995616del	NCBI36
NG_007068.1:g.9267del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.844del MANE Select	ENSP00000483375.1:p.Gln282ArgfsTer?
ENST00000374497.7:c.844del	ENSP00000363621.3:p.Gln282ArgfsTer?
ENST00000418277.5:c.652del	ENSP00000414719.1:p.Gln218ArgfsTer?
ENST00000429356.5:c.603+159del	ENSP00000398585.1:n.603+159del
ENST00000456977.5:c.153+159del	ENSP00000397045.1:n.153+159del
ENST00000459934.5:n.1072del
ENST00000469556.1:n.348del
ENST00000481736.5:n.1248del
ENST00000617979.4:c.844del	ENSP00000483375.1:p.Gln282ArgfsTer?
NM_000403.3:c.844del	NP_000394.2:p.Gln282ArgfsTer?
NM_001008216.1:c.844del	NP_001008217.1:p.Gln282ArgfsTer?
NM_001127621.1:c.844del	NP_001121093.1:p.Gln282ArgfsTer?
NM_001008216.2:c.844del MANE Select	NP_001008217.1:p.Gln282ArgfsTer?
NM_000403.4:c.844del	NP_000394.2:p.Gln282ArgfsTer?
NM_001127621.2:c.844del	NP_001121093.1:p.Gln282ArgfsTer?