Canonical Allele Identifier: CA2594429580

Gene: GALE

Linked Data

• gnomAD v3: 1-23798334-TCGCTC-T
• gnomAD v4: 1-23798334-TCGCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23798335_23798339del , CM000663.2:g.23798335_23798339del	GRCh38
NC_000001.10:g.24124825_24124829del , CM000663.1:g.24124825_24124829del	GRCh37
NC_000001.9:g.23997412_23997416del	NCBI36
NG_007068.1:g.7466_7470del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.238-109_238-105del MANE Select	ENSP00000483375.1:n.238-109_238-105del
ENST00000374497.7:c.238-109_238-105del	ENSP00000363621.3:n.238-109_238-105del
ENST00000418277.5:c.46-109_46-105del	ENSP00000414719.1:n.46-109_46-105del
ENST00000425913.5:c.238-109_238-105del	ENSP00000393359.1:n.238-109_238-105del
ENST00000429356.5:c.46-109_46-105del	ENSP00000398585.1:n.46-109_46-105del
ENST00000445705.1:c.238-109_238-105del	ENSP00000398257.1:n.238-109_238-105del
ENST00000459934.5:n.356-109_356-105del
ENST00000467493.5:n.589_593del
ENST00000470383.1:n.2061_2065del
ENST00000470949.5:n.188-114_188-110del
ENST00000481736.5:n.533_537del
ENST00000486382.1:n.344-114_344-110del
ENST00000617979.4:c.238-109_238-105del	ENSP00000483375.1:n.238-109_238-105del
NM_000403.3:c.238-109_238-105del	NP_000394.2:n.238-109_238-105del
NM_001008216.1:c.238-109_238-105del	NP_001008217.1:n.238-109_238-105del
NM_001127621.1:c.238-109_238-105del	NP_001121093.1:n.238-109_238-105del
NM_001008216.2:c.238-109_238-105del MANE Select	NP_001008217.1:n.238-109_238-105del
NM_000403.4:c.238-109_238-105del	NP_000394.2:n.238-109_238-105del
NM_001127621.2:c.238-109_238-105del	NP_001121093.1:n.238-109_238-105del