Canonical Allele Identifier: CA878423552

Gene: PGK1

Linked Data

• dbSNP Id: rs1418185733
• MyVariant Identifiers: chrX:g.78117906_78117907del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78117908_78117909del , CM000685.2:g.78117908_78117909del	GRCh38
NC_000023.10:g.77373405_77373406del , CM000685.1:g.77373405_77373406del	GRCh37
NC_000023.9:g.77260061_77260062del	NCBI36
NG_008862.1:g.18740_18741del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373316.5:c.522-143_522-142del MANE Select	ENSP00000362413.4:n.522-143_522-142del
ENST00000644362.1:c.438-143_438-142del	ENSP00000496140.1:n.438-143_438-142del
ENST00000373316.4:c.522-143_522-142del	ENSP00000362413.4:n.522-143_522-142del
ENST00000491291.1:n.514-143_514-142del
NM_000291.3:c.522-143_522-142del	NP_000282.1:n.522-143_522-142del
NM_000291.4:c.522-143_522-142del MANE Select	NP_000282.1:n.522-143_522-142del