Canonical Allele Identifier: CA2614199320

Gene: PYGM

Linked Data

• gnomAD v4: 11-64747005-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747005_64747006insC , CM000673.2:g.64747005_64747006insC	GRCh38
NC_000011.9:g.64514477_64514478insC , CM000673.1:g.64514477_64514478insC	GRCh37
NC_000011.8:g.64271053_64271054insC	NCBI36
NG_007574.1:g.3451_3452insG , LRG_100:g.3451_3452insG
NG_013018.1:g.18710_18711insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2313-19_2313-18insG MANE Select	ENSP00000164139.3:n.2313-19_2313-18insG
ENST00000164139.3:c.2313-19_2313-18insG	ENSP00000164139.3:n.2313-19_2313-18insG
ENST00000377432.7:c.2049-19_2049-18insG	ENSP00000366650.3:n.2049-19_2049-18insG
ENST00000483742.1:n.1666-19_1666-18insG
NM_001164716.1:c.2049-19_2049-18insG	NP_001158188.1:n.2049-19_2049-18insG
NM_005609.2:c.2313-19_2313-18insG	NP_005600.1:n.2313-19_2313-18insG
NM_005609.3:c.2313-19_2313-18insG	NP_005600.1:n.2313-19_2313-18insG
NM_005609.4:c.2313-19_2313-18insG MANE Select	NP_005600.1:n.2313-19_2313-18insG