Canonical Allele Identifier: CA733287555

Gene: GALE

Linked Data

• dbSNP Id: rs1159873492
• MyVariant Identifiers: chr1:g.24124694del (hg19) ; chr1:g.23798204del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23798206del , CM000663.2:g.23798206del	GRCh38
NC_000001.10:g.24124696del , CM000663.1:g.24124696del	GRCh37
NC_000001.9:g.23997283del	NCBI36
NG_007068.1:g.7601del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.264del MANE Select	ENSP00000483375.1:p.Phe88LeufsTer22
ENST00000374497.7:c.264del	ENSP00000363621.3:p.Phe88LeufsTer22
ENST00000418277.5:c.72del	ENSP00000414719.1:p.Phe24LeufsTer22
ENST00000425913.5:c.264del	ENSP00000393359.1:p.Phe88LeufsTer22
ENST00000429356.5:c.72del	ENSP00000398585.1:p.Phe24LeufsTer22
ENST00000445705.1:c.264del	ENSP00000398257.1:p.Phe88LeufsTer22
ENST00000459934.5:n.382del
ENST00000467493.5:n.724del
ENST00000470949.5:n.209del
ENST00000481736.5:n.668del
ENST00000486382.1:n.365del
ENST00000617979.4:c.264del	ENSP00000483375.1:p.Phe88LeufsTer22
NM_000403.3:c.264del	NP_000394.2:p.Phe88LeufsTer22
NM_001008216.1:c.264del	NP_001008217.1:p.Phe88LeufsTer22
NM_001127621.1:c.264del	NP_001121093.1:p.Phe88LeufsTer22
NM_001008216.2:c.264del MANE Select	NP_001008217.1:p.Phe88LeufsTer22
NM_000403.4:c.264del	NP_000394.2:p.Phe88LeufsTer22
NM_001127621.2:c.264del	NP_001121093.1:p.Phe88LeufsTer22