Canonical Allele Identifier: CA2614199449

Gene: PYGM

Linked Data

• gnomAD v4: 11-64747139-CCCGCGTCCGGCTTCCCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747142_64747159del , CM000673.2:g.64747142_64747159del	GRCh38
NC_000011.9:g.64514614_64514631del , CM000673.1:g.64514614_64514631del	GRCh37
NC_000011.8:g.64271190_64271207del	NCBI36
NG_007574.1:g.3300_3317del , LRG_100:g.3300_3317del
NG_013018.1:g.18559_18576del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2312+67_2312+84del MANE Select	ENSP00000164139.3:n.2312+67_2312+84del
ENST00000164139.3:c.2312+67_2312+84del	ENSP00000164139.3:n.2312+67_2312+84del
ENST00000377432.7:c.2048+67_2048+84del	ENSP00000366650.3:n.2048+67_2048+84del
ENST00000483742.1:n.1665+67_1665+84del
NM_001164716.1:c.2048+67_2048+84del	NP_001158188.1:n.2048+67_2048+84del
NM_005609.2:c.2312+67_2312+84del	NP_005600.1:n.2312+67_2312+84del
NM_005609.3:c.2312+67_2312+84del	NP_005600.1:n.2312+67_2312+84del
NM_005609.4:c.2312+67_2312+84del MANE Select	NP_005600.1:n.2312+67_2312+84del