Canonical Allele Identifier: CA2614192125

Gene: PYGM

Linked Data

• gnomAD v4: 11-64759958-G-GATGGTAGAGGGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64759958_64759959insATGGTAGAGGGGA , CM000673.2:g.64759958_64759959insATGGTAGAGGGGA	GRCh38
NC_000011.9:g.64527430_64527431insATGGTAGAGGGGA , CM000673.1:g.64527430_64527431insATGGTAGAGGGGA	GRCh37
NC_000011.8:g.64284006_64284007insATGGTAGAGGGGA	NCBI36
NG_013018.1:g.5757_5758insTCCCCTCTACCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.-61_-60insTCCCCTCTACCAT MANE Select	ENSP00000164139.3:n.-61_-60insTCCCCTCTACCAT
ENST00000164139.3:c.-61_-60insTCCCCTCTACCAT	ENSP00000164139.3:n.-61_-60insTCCCCTCTACCAT
ENST00000377432.7:c.-61_-60insTCCCCTCTACCAT	ENSP00000366650.3:n.-61_-60insTCCCCTCTACCAT
NM_001164716.1:c.-61_-60insTCCCCTCTACCAT	NP_001158188.1:n.-61_-60insTCCCCTCTACCAT
NM_005609.2:c.-61_-60insTCCCCTCTACCAT	NP_005600.1:n.-61_-60insTCCCCTCTACCAT
NM_005609.3:c.-61_-60insTCCCCTCTACCAT	NP_005600.1:n.-61_-60insTCCCCTCTACCAT
NM_005609.4:c.-61_-60insTCCCCTCTACCAT MANE Select	NP_005600.1:n.-61_-60insTCCCCTCTACCAT