Canonical Allele Identifier: CA521645352

Gene: GALE

Linked Data

• dbSNP Id: rs1184686793
• gnomAD v2: 1-24124974-TC-T
• gnomAD v4: 1-23798484-TC-T
• MyVariant Identifiers: chr1:g.24124975del (hg19) ; chr1:g.23798485del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23798485del , CM000663.2:g.23798485del	GRCh38
NC_000001.10:g.24124975del , CM000663.1:g.24124975del	GRCh37
NC_000001.9:g.23997562del	NCBI36
NG_007068.1:g.7320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.237+130del MANE Select	ENSP00000483375.1:n.237+130del
ENST00000374497.7:c.237+130del	ENSP00000363621.3:n.237+130del
ENST00000418277.5:c.45+130del	ENSP00000414719.1:n.45+130del
ENST00000425913.5:c.237+130del	ENSP00000393359.1:n.237+130del
ENST00000429356.5:c.45+130del	ENSP00000398585.1:n.45+130del
ENST00000445705.1:c.237+130del	ENSP00000398257.1:n.237+130del
ENST00000459934.5:n.355+130del
ENST00000466250.5:n.493del
ENST00000467493.5:n.443del
ENST00000470383.1:n.1915del
ENST00000470949.5:n.187+130del
ENST00000481736.5:n.387del
ENST00000486382.1:n.343+130del
ENST00000617979.4:c.237+130del	ENSP00000483375.1:n.237+130del
NM_000403.3:c.237+130del	NP_000394.2:n.237+130del
NM_001008216.1:c.237+130del	NP_001008217.1:n.237+130del
NM_001127621.1:c.237+130del	NP_001121093.1:n.237+130del
NM_001008216.2:c.237+130del MANE Select	NP_001008217.1:n.237+130del
NM_000403.4:c.237+130del	NP_000394.2:n.237+130del
NM_001127621.2:c.237+130del	NP_001121093.1:n.237+130del