Canonical Allele Identifier: CA1978930142

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64759937_64759945delinsGGGGACGGC , CM000673.2:g.64759937_64759945delinsGGGGACGGC	GRCh38
NC_000011.9:g.64527409_64527417delinsGGGGACGGC , CM000673.1:g.64527409_64527417delinsGGGGACGGC	GRCh37
NC_000011.8:g.64283985_64283993delinsGGGGACGGC	NCBI36
NG_013018.1:g.5771_5779delinsGCCGTCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.-47_-39delinsGCCGTCCCC MANE Select	ENSP00000164139.3:n.-47_-39delinsGCCGTCCCC
ENST00000164139.3:c.-47_-39delinsGCCGTCCCC	ENSP00000164139.3:n.-47_-39delinsGCCGTCCCC
ENST00000377432.7:c.-47_-39delinsGCCGTCCCC	ENSP00000366650.3:n.-47_-39delinsGCCGTCCCC
NM_001164716.1:c.-47_-39delinsGCCGTCCCC	NP_001158188.1:n.-47_-39delinsGCCGTCCCC
NM_005609.2:c.-47_-39delinsGCCGTCCCC	NP_005600.1:n.-47_-39delinsGCCGTCCCC
NM_005609.3:c.-47_-39delinsGCCGTCCCC	NP_005600.1:n.-47_-39delinsGCCGTCCCC
NM_005609.4:c.-47_-39delinsGCCGTCCCC MANE Select	NP_005600.1:n.-47_-39delinsGCCGTCCCC