Canonical Allele Identifier: CA19281787

Gene: GALE

Linked Data

• dbSNP Id: rs947138345
• gnomAD v3: 1-23797989-CTG-C
• gnomAD v4: 1-23797989-CTG-C
• MyVariant Identifiers: chr1:g.24124480_24124481del (hg19) ; chr1:g.23797990_23797991del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23797990_23797991del , CM000663.2:g.23797990_23797991del	GRCh38
NC_000001.10:g.24124480_24124481del , CM000663.1:g.24124480_24124481del	GRCh37
NC_000001.9:g.23997067_23997068del	NCBI36
NG_007068.1:g.7814_7815del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.352-120_352-119del MANE Select	ENSP00000483375.1:n.352-120_352-119del
ENST00000374497.7:c.352-120_352-119del	ENSP00000363621.3:n.352-120_352-119del
ENST00000418277.5:c.160-120_160-119del	ENSP00000414719.1:n.160-120_160-119del
ENST00000425913.5:c.352-120_352-119del	ENSP00000393359.1:n.352-120_352-119del
ENST00000429356.5:c.160-120_160-119del	ENSP00000398585.1:n.160-120_160-119del
ENST00000445705.1:c.352-120_352-119del	ENSP00000398257.1:n.352-120_352-119del
ENST00000459934.5:n.470-120_470-119del
ENST00000467493.5:n.812-120_812-119del
ENST00000470949.5:n.297-120_297-119del
ENST00000481736.5:n.756-120_756-119del
ENST00000617979.4:c.352-120_352-119del	ENSP00000483375.1:n.352-120_352-119del
NM_000403.3:c.352-120_352-119del	NP_000394.2:n.352-120_352-119del
NM_001008216.1:c.352-120_352-119del	NP_001008217.1:n.352-120_352-119del
NM_001127621.1:c.352-120_352-119del	NP_001121093.1:n.352-120_352-119del
NM_001008216.2:c.352-120_352-119del MANE Select	NP_001008217.1:n.352-120_352-119del
NM_000403.4:c.352-120_352-119del	NP_000394.2:n.352-120_352-119del
NM_001127621.2:c.352-120_352-119del	NP_001121093.1:n.352-120_352-119del