Canonical Allele Identifier: CA2644079132

Gene: GALE

Linked Data

• gnomAD v4: 1-23798197-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23798201del , CM000663.2:g.23798201del	GRCh38
NC_000001.10:g.24124691del , CM000663.1:g.24124691del	GRCh37
NC_000001.9:g.23997278del	NCBI36
NG_007068.1:g.7607del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.270del MANE Select	ENSP00000483375.1:p.Leu91SerfsTer19
ENST00000374497.7:c.270del	ENSP00000363621.3:p.Leu91SerfsTer19
ENST00000418277.5:c.78del	ENSP00000414719.1:p.Leu27SerfsTer19
ENST00000425913.5:c.270del	ENSP00000393359.1:p.Leu91SerfsTer19
ENST00000429356.5:c.78del	ENSP00000398585.1:p.Leu27SerfsTer19
ENST00000445705.1:c.270del	ENSP00000398257.1:p.Leu91SerfsTer19
ENST00000459934.5:n.388del
ENST00000467493.5:n.730del
ENST00000470949.5:n.215del
ENST00000481736.5:n.674del
ENST00000486382.1:n.371del
ENST00000617979.4:c.270del	ENSP00000483375.1:p.Leu91SerfsTer19
NM_000403.3:c.270del	NP_000394.2:p.Leu91SerfsTer19
NM_001008216.1:c.270del	NP_001008217.1:p.Leu91SerfsTer19
NM_001127621.1:c.270del	NP_001121093.1:p.Leu91SerfsTer19
NM_001008216.2:c.270del MANE Select	NP_001008217.1:p.Leu91SerfsTer19
NM_000403.4:c.270del	NP_000394.2:p.Leu91SerfsTer19
NM_001127621.2:c.270del	NP_001121093.1:p.Leu91SerfsTer19