Canonical Allele Identifier: CA2614199834

Gene: PYGM

Linked Data

• gnomAD v4: 11-64747605-C-CGA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747605_64747606insGA , CM000673.2:g.64747605_64747606insGA	GRCh38
NC_000011.9:g.64515077_64515078insGA , CM000673.1:g.64515077_64515078insGA	GRCh37
NC_000011.8:g.64271653_64271654insGA	NCBI36
NG_007574.1:g.2851_2852insTC , LRG_100:g.2851_2852insTC
NG_013018.1:g.18110_18111insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2178-248_2178-247insTC MANE Select	ENSP00000164139.3:n.2178-248_2178-247insTC
ENST00000164139.3:c.2178-248_2178-247insTC	ENSP00000164139.3:n.2178-248_2178-247insTC
ENST00000377432.7:c.1914-248_1914-247insTC	ENSP00000366650.3:n.1914-248_1914-247insTC
ENST00000483742.1:n.1283_1284insTC
NM_001164716.1:c.1914-248_1914-247insTC	NP_001158188.1:n.1914-248_1914-247insTC
NM_005609.2:c.2178-248_2178-247insTC	NP_005600.1:n.2178-248_2178-247insTC
NM_005609.3:c.2178-248_2178-247insTC	NP_005600.1:n.2178-248_2178-247insTC
NM_005609.4:c.2178-248_2178-247insTC MANE Select	NP_005600.1:n.2178-248_2178-247insTC