Canonical Allele Identifier: CA2694155828

Gene: PGK1

Linked Data

• gnomAD v4: X-78117908-G-GTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78117914_78117915insTTTTTTT , CM000685.2:g.78117914_78117915insTTTTTTT	GRCh38
NC_000023.10:g.77373411_77373412insTTTTTTT , CM000685.1:g.77373411_77373412insTTTTTTT	GRCh37
NC_000023.9:g.77260067_77260068insTTTTTTT	NCBI36
NG_008862.1:g.18746_18747insTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373316.5:c.522-137_522-136insTTTTTTT MANE Select	ENSP00000362413.4:n.522-137_522-136insTTTTTTT
ENST00000644362.1:c.438-137_438-136insTTTTTTT	ENSP00000496140.1:n.438-137_438-136insTTTTTTT
ENST00000373316.4:c.522-137_522-136insTTTTTTT	ENSP00000362413.4:n.522-137_522-136insTTTTTTT
ENST00000491291.1:n.514-137_514-136insTTTTTTT
NM_000291.3:c.522-137_522-136insTTTTTTT	NP_000282.1:n.522-137_522-136insTTTTTTT
NM_000291.4:c.522-137_522-136insTTTTTTT MANE Select	NP_000282.1:n.522-137_522-136insTTTTTTT