Canonical Allele Identifier: CA2614199776

Gene: PYGM

Linked Data

• gnomAD v4: 11-64747570-CGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747571_64747572del , CM000673.2:g.64747571_64747572del	GRCh38
NC_000011.9:g.64515043_64515044del , CM000673.1:g.64515043_64515044del	GRCh37
NC_000011.8:g.64271619_64271620del	NCBI36
NG_007574.1:g.2885_2886del , LRG_100:g.2885_2886del
NG_013018.1:g.18144_18145del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2178-214_2178-213del MANE Select	ENSP00000164139.3:n.2178-214_2178-213del
ENST00000164139.3:c.2178-214_2178-213del	ENSP00000164139.3:n.2178-214_2178-213del
ENST00000377432.7:c.1914-214_1914-213del	ENSP00000366650.3:n.1914-214_1914-213del
ENST00000483742.1:n.1317_1318del
NM_001164716.1:c.1914-214_1914-213del	NP_001158188.1:n.1914-214_1914-213del
NM_005609.2:c.2178-214_2178-213del	NP_005600.1:n.2178-214_2178-213del
NM_005609.3:c.2178-214_2178-213del	NP_005600.1:n.2178-214_2178-213del
NM_005609.4:c.2178-214_2178-213del MANE Select	NP_005600.1:n.2178-214_2178-213del