Canonical Allele Identifier: CA2614199446

Gene: PYGM

Linked Data

• gnomAD v4: 11-64747137-GACCCGCGTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747138_64747146del , CM000673.2:g.64747138_64747146del	GRCh38
NC_000011.9:g.64514610_64514618del , CM000673.1:g.64514610_64514618del	GRCh37
NC_000011.8:g.64271186_64271194del	NCBI36
NG_007574.1:g.3311_3319del , LRG_100:g.3311_3319del
NG_013018.1:g.18570_18578del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2312+78_2312+86del MANE Select	ENSP00000164139.3:n.2312+78_2312+86del
ENST00000164139.3:c.2312+78_2312+86del	ENSP00000164139.3:n.2312+78_2312+86del
ENST00000377432.7:c.2048+78_2048+86del	ENSP00000366650.3:n.2048+78_2048+86del
ENST00000483742.1:n.1665+78_1665+86del
NM_001164716.1:c.2048+78_2048+86del	NP_001158188.1:n.2048+78_2048+86del
NM_005609.2:c.2312+78_2312+86del	NP_005600.1:n.2312+78_2312+86del
NM_005609.3:c.2312+78_2312+86del	NP_005600.1:n.2312+78_2312+86del
NM_005609.4:c.2312+78_2312+86del MANE Select	NP_005600.1:n.2312+78_2312+86del