Canonical Allele Identifier: CA2614199463

Gene: PYGM

Linked Data

• gnomAD v4: 11-64747158-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747158_64747159insA , CM000673.2:g.64747158_64747159insA	GRCh38
NC_000011.9:g.64514630_64514631insA , CM000673.1:g.64514630_64514631insA	GRCh37
NC_000011.8:g.64271206_64271207insA	NCBI36
NG_007574.1:g.3298_3299insT , LRG_100:g.3298_3299insT
NG_013018.1:g.18557_18558insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2312+65_2312+66insT MANE Select	ENSP00000164139.3:n.2312+65_2312+66insT
ENST00000164139.3:c.2312+65_2312+66insT	ENSP00000164139.3:n.2312+65_2312+66insT
ENST00000377432.7:c.2048+65_2048+66insT	ENSP00000366650.3:n.2048+65_2048+66insT
ENST00000483742.1:n.1665+65_1665+66insT
NM_001164716.1:c.2048+65_2048+66insT	NP_001158188.1:n.2048+65_2048+66insT
NM_005609.2:c.2312+65_2312+66insT	NP_005600.1:n.2312+65_2312+66insT
NM_005609.3:c.2312+65_2312+66insT	NP_005600.1:n.2312+65_2312+66insT
NM_005609.4:c.2312+65_2312+66insT MANE Select	NP_005600.1:n.2312+65_2312+66insT