Canonical Allele Identifier: CA2614199820

Gene: PYGM

Linked Data

• gnomAD v4: 11-64747597-A-ATTTTTTAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747597_64747598insTTTTTTAAT , CM000673.2:g.64747597_64747598insTTTTTTAAT	GRCh38
NC_000011.9:g.64515069_64515070insTTTTTTAAT , CM000673.1:g.64515069_64515070insTTTTTTAAT	GRCh37
NC_000011.8:g.64271645_64271646insTTTTTTAAT	NCBI36
NG_007574.1:g.2859_2860insATTAAAAAA , LRG_100:g.2859_2860insATTAAAAAA
NG_013018.1:g.18118_18119insATTAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2178-240_2178-239insATTAAAAAA MANE Select	ENSP00000164139.3:n.2178-240_2178-239insATTAAAAAA
ENST00000164139.3:c.2178-240_2178-239insATTAAAAAA	ENSP00000164139.3:n.2178-240_2178-239insATTAAAAAA
ENST00000377432.7:c.1914-240_1914-239insATTAAAAAA	ENSP00000366650.3:n.1914-240_1914-239insATTAAAAAA
ENST00000483742.1:n.1291_1292insATTAAAAAA
NM_001164716.1:c.1914-240_1914-239insATTAAAAAA	NP_001158188.1:n.1914-240_1914-239insATTAAAAAA
NM_005609.2:c.2178-240_2178-239insATTAAAAAA	NP_005600.1:n.2178-240_2178-239insATTAAAAAA
NM_005609.3:c.2178-240_2178-239insATTAAAAAA	NP_005600.1:n.2178-240_2178-239insATTAAAAAA
NM_005609.4:c.2178-240_2178-239insATTAAAAAA MANE Select	NP_005600.1:n.2178-240_2178-239insATTAAAAAA