Canonical Allele Identifier: CA2614197311

Gene: PYGM

Linked Data

• gnomAD v4: 11-64753509-CGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64753512_64753513del , CM000673.2:g.64753512_64753513del	GRCh38
NC_000011.9:g.64520984_64520985del , CM000673.1:g.64520984_64520985del	GRCh37
NC_000011.8:g.64277560_64277561del	NCBI36
NG_013018.1:g.12205_12206del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1403+8_1403+9del MANE Select	ENSP00000164139.3:n.1403+8_1403+9del
ENST00000164139.3:c.1403+8_1403+9del	ENSP00000164139.3:n.1403+8_1403+9del
ENST00000377432.7:c.1139+8_1139+9del	ENSP00000366650.3:n.1139+8_1139+9del
NM_001164716.1:c.1139+8_1139+9del	NP_001158188.1:n.1139+8_1139+9del
NM_005609.2:c.1403+8_1403+9del	NP_005600.1:n.1403+8_1403+9del
NM_005609.3:c.1403+8_1403+9del	NP_005600.1:n.1403+8_1403+9del
NM_005609.4:c.1403+8_1403+9del MANE Select	NP_005600.1:n.1403+8_1403+9del