Canonical Allele Identifier: CA521903311

Gene: GALE

Linked Data

• dbSNP Id: rs1353426182
• gnomAD v2: 1-24124641-CTG-C
• gnomAD v4: 1-23798151-CTG-C
• MyVariant Identifiers: chr1:g.24124642_24124643del (hg19) ; chr1:g.23798152_23798153del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23798153_23798154del , CM000663.2:g.23798153_23798154del	GRCh38
NC_000001.10:g.24124643_24124644del , CM000663.1:g.24124643_24124644del	GRCh37
NC_000001.9:g.23997230_23997231del	NCBI36
NG_007068.1:g.7652_7653del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.315_316del MANE Select	ENSP00000483375.1:p.Tyr105Ter
ENST00000374497.7:c.315_316del	ENSP00000363621.3:p.Tyr105Ter
ENST00000418277.5:c.123_124del	ENSP00000414719.1:p.Tyr41Ter
ENST00000425913.5:c.315_316del	ENSP00000393359.1:p.Tyr105Ter
ENST00000429356.5:c.123_124del	ENSP00000398585.1:p.Tyr41Ter
ENST00000445705.1:c.315_316del	ENSP00000398257.1:p.Tyr105Ter
ENST00000459934.5:n.433_434del
ENST00000467493.5:n.775_776del
ENST00000470949.5:n.260_261del
ENST00000481736.5:n.719_720del
ENST00000486382.1:n.416_417del
ENST00000617979.4:c.315_316del	ENSP00000483375.1:p.Tyr105Ter
NM_000403.3:c.315_316del	NP_000394.2:p.Tyr105Ter
NM_001008216.1:c.315_316del	NP_001008217.1:p.Tyr105Ter
NM_001127621.1:c.315_316del	NP_001121093.1:p.Tyr105Ter
NM_001008216.2:c.315_316del MANE Select	NP_001008217.1:p.Tyr105Ter
NM_000403.4:c.315_316del	NP_000394.2:p.Tyr105Ter
NM_001127621.2:c.315_316del	NP_001121093.1:p.Tyr105Ter