Canonical Allele Identifier: CA1158961403

Gene: GALE

Linked Data

• dbSNP Id: rs1639020684

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23798151_23798152del , CM000663.2:g.23798151_23798152del	GRCh38
NC_000001.10:g.24124641_24124642del , CM000663.1:g.24124641_24124642del	GRCh37
NC_000001.9:g.23997228_23997229del	NCBI36
NG_007068.1:g.7655_7656del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.318_319del MANE Select	ENSP00000483375.1:p.Arg106SerfsTer2
ENST00000374497.7:c.318_319del	ENSP00000363621.3:p.Arg106SerfsTer2
ENST00000418277.5:c.126_127del	ENSP00000414719.1:p.Arg42SerfsTer2
ENST00000425913.5:c.318_319del	ENSP00000393359.1:p.Arg106SerfsTer2
ENST00000429356.5:c.126_127del	ENSP00000398585.1:p.Arg42SerfsTer2
ENST00000445705.1:c.318_319del	ENSP00000398257.1:p.Arg106SerfsTer2
ENST00000459934.5:n.436_437del
ENST00000467493.5:n.778_779del
ENST00000470949.5:n.263_264del
ENST00000481736.5:n.722_723del
ENST00000486382.1:n.419_420del
ENST00000617979.4:c.318_319del	ENSP00000483375.1:p.Arg106SerfsTer2
NM_000403.3:c.318_319del	NP_000394.2:p.Arg106SerfsTer2
NM_001008216.1:c.318_319del	NP_001008217.1:p.Arg106SerfsTer2
NM_001127621.1:c.318_319del	NP_001121093.1:p.Arg106SerfsTer2
NM_001008216.2:c.318_319del MANE Select	NP_001008217.1:p.Arg106SerfsTer2
NM_000403.4:c.318_319del	NP_000394.2:p.Arg106SerfsTer2
NM_001127621.2:c.318_319del	NP_001121093.1:p.Arg106SerfsTer2