Canonical Allele Identifier: CA2644079562

Gene: GALE

Linked Data

• gnomAD v4: 1-23798351-C-CTGGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23798353_23798357dup , CM000663.2:g.23798353_23798357dup	GRCh38
NC_000001.10:g.24124843_24124847dup , CM000663.1:g.24124843_24124847dup	GRCh37
NC_000001.9:g.23997430_23997434dup	NCBI36
NG_007068.1:g.7449_7453dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.238-126_238-122dup MANE Select	ENSP00000483375.1:n.238-126_238-122dup
ENST00000374497.7:c.238-126_238-122dup	ENSP00000363621.3:n.238-126_238-122dup
ENST00000418277.5:c.46-126_46-122dup	ENSP00000414719.1:n.46-126_46-122dup
ENST00000425913.5:c.238-126_238-122dup	ENSP00000393359.1:n.238-126_238-122dup
ENST00000429356.5:c.46-126_46-122dup	ENSP00000398585.1:n.46-126_46-122dup
ENST00000445705.1:c.238-126_238-122dup	ENSP00000398257.1:n.238-126_238-122dup
ENST00000459934.5:n.356-126_356-122dup
ENST00000467493.5:n.572_576dup
ENST00000470383.1:n.2044_2048dup
ENST00000470949.5:n.188-131_188-127dup
ENST00000481736.5:n.516_520dup
ENST00000486382.1:n.344-131_344-127dup
ENST00000617979.4:c.238-126_238-122dup	ENSP00000483375.1:n.238-126_238-122dup
NM_000403.3:c.238-126_238-122dup	NP_000394.2:n.238-126_238-122dup
NM_001008216.1:c.238-126_238-122dup	NP_001008217.1:n.238-126_238-122dup
NM_001127621.1:c.238-126_238-122dup	NP_001121093.1:n.238-126_238-122dup
NM_001008216.2:c.238-126_238-122dup MANE Select	NP_001008217.1:n.238-126_238-122dup
NM_000403.4:c.238-126_238-122dup	NP_000394.2:n.238-126_238-122dup
NM_001127621.2:c.238-126_238-122dup	NP_001121093.1:n.238-126_238-122dup